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Results for "NRXN1"

Variant Events: 410

Gene
Gene symbol on which the variant is located
ID
Subject Identifier from the original study
Location
Genomic location of the reference allele
REF
Reference allele
ALT
Alternate allele
Context
Variant functional categories
Variant validation performed by an orthogonal method and reported
Inheritance
Reported inheritance status
Effects
Variant effect on transcript per Annovar
Transcript
Transcript used for the cDNA/Protein mutation
cDNA
cDNA variant notation
Protein
Protein variant notation
CADD-Phred v1.0
CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores
ExAC v0.3
ExAC population frequency (version 0.3)
Sources
Source(s) where variants from this event are reported
NRXN1     mAGRE5784chr2:
51149006-51149006		CAintronicMaternal18.18-Cirnigliaro2023 G
NRXN1     mAGRE1889chr2:
50780064-50780064		CAexonicPaternalstopgainNM_004801
NM_001135659		c.G1420T
c.G1540T		p.E474X
p.E514X		49.0-Cirnigliaro2023 G
NRXN1     AU1308303chr2:
50780064-50780064		CAexonicPaternalstopgainNM_004801
NM_001135659		c.G1420T
c.G1540T		p.E474X
p.E514X		49.0-Cirnigliaro2023 G
NRXN1     1-0534-006chr2:
50969632-50969632		GAintronicDe novo--Trost2022 G
Yuen2017 G
NRXN1     AU4426303chr2:
50542180-50542180		CGintronicDe novo--Trost2022 G
Yuen2017 G
NRXN1     AGRE_03C23225chr2:
50733684-50733684		GAexonicUnknownnonsynonymous SNVNM_004801
NM_001135659		c.C2446T
c.C2566T		p.R816W
p.R856W		20.81.706E-5Wang2020 T
NRXN1     ACGC_M27849chr2:
51255153-51255153		CAexonicUnknownnonsynonymous SNVNM_001135659
NM_004801		c.G259T
c.G259T		p.G87C
p.G87C		25.1-Wang2020 T
NRXN1     ACGC_GD0072.p1chr2:
50149288-50149288		CTexonicUnknownnonsynonymous SNVNM_138735
NM_004801
NM_001135659		c.G1123A
c.G4228A
c.G4438A		p.A375T
p.A1410T
p.A1480T		25.98.239E-6Wang2020 T
NRXN1     AGRE_AU1165302chr2:
50733684-50733684		GAexonicUnknownnonsynonymous SNVNM_004801
NM_001135659		c.C2446T
c.C2566T		p.R816W
p.R856W		20.81.706E-5Wang2020 T
NRXN1     ACGC_HN0187.p1chr2:
50282131-50282131		CAexonicUnknownnonsynonymous SNVNM_001135659c.G3890Tp.R1297L18.47-Wang2020 T
NRXN1     ACGC_SX0028.p1chr2:
50758385-50758393		ACACGTCCTAGexonicUnknownframeshift substitutionNM_004801
NM_001135659		c.2319_2326C
c.2439_2446C		N/A
N/A		--Wang2020 T
NRXN1     ACGC_SX0080.p1chr2:
50724511-50724511		CTexonicUnknownnonsynonymous SNVNM_004801
NM_001135659		c.G2839A
c.G2959A		p.G947R
p.G987R		32.0-Wang2020 T
NRXN1     ACGC_SD0017.p1chr2:
50723223-50723223		ATexonicUnknownnonsynonymous SNVNM_004801
NM_001135659		c.T2890A
c.T3010A		p.Y964N
p.Y1004N		23.1-Wang2020 T
NRXN1     2-1620-003chr2:
50277024-50277024		TGintronicDe novo--Trost2022 G
Yuen2017 G
NRXN1     AU1640302chr2:
51641587-51641587		TGintergenicDe novo--Yuen2017 G
NRXN1     ACGC_M23182chr2:
50724852-50724852		CTexonicUnknownnonsynonymous SNVNM_004801
NM_001135659		c.G2498A
c.G2618A		p.G833D
p.G873D		28.9-Wang2020 T
NRXN1     AU061104chr2:
50755770-50755772		ACAAexonicInheritedframeshift deletionNM_004801
NM_001135659		c.2365_2366del
c.2485_2486del		p.C789fs
p.C829fs		--Stessman2017 T
NRXN1     ACGC_HEN0045.p1chr2:
50724852-50724852		CTexonicUnknownnonsynonymous SNVNM_004801
NM_001135659		c.G2498A
c.G2618A		p.G833D
p.G873D		28.9-Wang2020 T
NRXN1     Wright2024:Par31chr2:
50464031-50464031		GAexonicDe novostopgainNM_138735
NM_004801
NM_001135659		c.C337T
c.C3442T
c.C3562T		p.R113X
p.R1148X
p.R1188X		50.0-Wright2024 E
NRXN1     AU079104chr2:
51819111-51819111		AGintergenicDe novo--Yuen2017 G
NRXN1     2-1431-003chr2:
50906082-50906082		GAintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
NRXN1     SSC04927chr2:
50724605-50724605		ATexonicDe novostopgainNM_004801
NM_001135659		c.T2745A
c.T2865A		p.Y915X
p.Y955X		49.0-Antaki2022 GE
Fu2022 E
Lim2017 E
Trost2022 G
NRXN1     2-1431-003chr2:
50915714-50915714		GCintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
NRXN1     1-0531-003chr2:
52829160-52829160		AGintergenicDe novo--Yuen2016 G
Yuen2017 G
NRXN1     Li2017:23778chr2:
50692611-50692611		CTexonicUnknownnonsynonymous SNVNM_004801
NM_001135659		c.G3333A
c.G3453A		p.M1111I
p.M1151I		24.8-Li2017 T
NRXN1     2-1431-003chr2:
50937891-50937891		TCintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
NRXN1     1-0485-003chr2:
52606458-52606461		TACATAintergenicDe novo--Yuen2017 G
NRXN1     AU4176302chr2:
52665542-52665542		GCintergenicDe novo--Yuen2017 G
NRXN1     7-0254-004chr2:
52853682-52853682		GAintergenicDe novo--Yuen2017 G
NRXN1     1-0572-003chr2:
50490235-50490235		GAintronicDe novo--Trost2022 G
Yuen2017 G
NRXN1     Wright2024:Par139chr2:
50758500-50758500		CAexonicUnknownstopgainNM_004801
NM_001135659		c.G2212T
c.G2332T		p.E738X
p.E778X		49.0-Wright2024 E
NRXN1     Wright2024:Par137chr2:
50758500-50758500		CAexonicPaternalstopgainNM_004801
NM_001135659		c.G2212T
c.G2332T		p.E738X
p.E778X		49.0-Wright2024 E
NRXN1     2-0022-003chr2:
50306068-50306068		GAintronicDe novo--Trost2022 G
Yuen2017 G
NRXN1     AU075703chr2:
52388399-52388399		CTintergenicDe novo--Yuen2017 G
NRXN1     2-1620-004chr2:
51089213-51089213		GAintronicDe novo--Trost2022 G
Yuen2017 G
NRXN1     2-1207-003chr2:
52690587-52690587		CTintergenicDe novo--Yuen2016 G
Yuen2017 G
NRXN1     B8Z4Fchr2:
50692579-50692579		CTsplicingInheritedsplicing22.5-Stessman2017 T
NRXN1     2-1460-003chr2:
51947621-51947621		TCintergenicDe novo--Yuen2017 G
NRXN1     1-0465-003chr2:
52058679-52058679		CTintergenicDe novo--Yuen2017 G
NRXN1     A31chr2:
50870593-50870593		CGintronicDe novo--Wu2018 G
NRXN1     2-1406-003chr2:
51689092-51689092		AGintergenicDe novo--Yuen2016 G
Yuen2017 G
NRXN1     AU3680301chr2:
50683158-50683158		AGintronicDe novo--Trost2022 G
Yuen2017 G
NRXN1     1-0452-003chr2:
52302220-52302220		TCintergenicDe novo--Yuen2016 G
Yuen2017 G
NRXN1     217-14288-4090 Complex Event; expand row to view variants  De novoframeshift deletionNM_138735
NM_004801
NM_001135659
NM_138735
NM_004801
NM_001135659		c.996delC
c.4101delC
c.4311delC
c.995delC
c.4100delC
c.4310delC		p.P332fs
p.P1367fs
p.P1437fs
p.P332fs
p.P1367fs
p.P1437fs		--O’Roak2014 T
Stessman2017 T
Stessman2017 T
NRXN1     2-0022-004chr2:
50678167-50678167		GAintronicDe novo--Trost2022 G
Yuen2017 G
NRXN1     74-0352chr2:
52580360-52580360		ATintergenicDe novo--Michaelson2012 G
NRXN1     2-1297-004chr2:
51083088-51083088		TCintronicDe novo--Trost2022 G
Yuen2017 G
NRXN1     AU3154302chr2:
52160245-52160245		AGintergenicDe novo--Yuen2017 G
NRXN1     AU4228302chr2:
50162790-50162790		CAintronicDe novo--Trost2022 G
Yuen2017 G
NRXN1     1-0465-003achr2:
52058679-52058679		CTintergenicDe novo--Yuen2017 G
NRXN1     7-0143-003chr2:
50638627-50638627		CGintronicDe novo--Trost2022 G
Yuen2017 G
NRXN1     2-1507-003chr2:
50386109-50386109		CTintronicDe novo--Trost2022 G
Yuen2017 G
NRXN1     AU2863303chr2:
51512074-51512074		AGintergenicDe novo--Yuen2017 G
NRXN1     2-1066-004chr2:
51551133-51551133		ATintergenicDe novo--Yuen2017 G
NRXN1     7-0248-003chr2:
51371191-51371191		GCintergenicDe novo--Yuen2017 G
NRXN1     AU1988301chr2:
51128158-51128158		GAintronicDe novo--Trost2022 G
Yuen2017 G
NRXN1     Wright2024:Par392chr2:
51149016-51149016		TTTintronicDe novo--Wright2024 E
NRXN1     2-1352-003chr2:
51797440-51797440		CTintergenicDe novo--Yuen2016 G
Yuen2017 G
NRXN1     1-0565-004chr2:
51476580-51476580		TAintergenicDe novo--Yuen2017 G
NRXN1     AU4243302chr2:
51473877-51473877		GCintergenicDe novo--Yuen2017 G
NRXN1     13557.p1chr2:
50562721-50562721		GAintronicDe novo--Wilfert2021 G
NRXN1     M26879 Complex Event; expand row to view variants  Maternalframeshift substitution, frameshift deletionNM_004801
NM_001135659
NM_004801
NM_001135659		c.2898delT
c.3018delT
c.2898_2899A
c.3018_3019A		p.F966fs
p.F1006fs
N/A
N/A		--Guo2018 T
Wang2016 T
NRXN1     1-0565-004chr2:
52409700-52409700		TTGTAAintergenicDe novo--Yuen2017 G
NRXN1     2-0102-003chr2:
52170820-52170820		GTintergenicDe novo--Yuen2017 G
NRXN1     AU4231301chr2:
51724931-51724931		AGintergenicDe novo--Yuen2017 G
NRXN1     1-0226-005chr2:
52687953-52687953		AGintergenicDe novo--Yuen2017 G
NRXN1     11474.p1chr2:
50703434-50703434		AGintronicDe novo--Wilfert2021 G
NRXN1     13823.p1chr2:
50624886-50624886		ACintronicDe novo--Wilfert2021 G
NRXN1     1-0609-003chr2:
50864033-50864033		TCintronicDe novo--Yuen2017 G
NRXN1     12799.p1chr2:
52886862-52886866		TTGCAGTGCCintergenicMaternal--Wilfert2021 G
NRXN1     1-0277-003chr2:
51514052-51514052		TCintergenicDe novo--Yuen2016 G
Yuen2017 G
NRXN1     AU3632301chr2:
52839347-52839347		TCintergenicDe novo--Yuen2017 G
NRXN1     AU031203chr2:
52601722-52601729		AAAAGAAAAAAAintergenicDe novo--Yuen2017 G
NRXN1     7-0077-003chr2:
50919107-50919107		TAintronicDe novo--Trost2022 G
Yuen2017 G
NRXN1     SP0152369chr2:
51256331-51256331		ATUTR5De novo--Tan2024 GE
Tan2024 GE
NRXN1     2-0135-004chr2:
50813838-50813838		GAintronicDe novo--Yuen2017 G
NRXN1     2-1508-003chr2:
52739191-52739191		TAintergenicDe novo--Yuen2017 G
NRXN1     AU3052302chr2:
50514188-50514188		GAintronicDe novo--Trost2022 G
Yuen2017 G
NRXN1     TASC_210-18164-301chr2:
50149217-50149217		GCexonicUnknownstopgainNM_138735
NM_004801
NM_001135659		c.C1194G
c.C4299G
c.C4509G		p.Y398X
p.Y1433X
p.Y1503X		49.0-Wang2020 T
NRXN1     AGRE_AU2054301chr2:
50149217-50149217		GCexonicUnknownstopgainNM_138735
NM_004801
NM_001135659		c.C1194G
c.C4299G
c.C4509G		p.Y398X
p.Y1433X
p.Y1503X		49.0-Wang2020 T
NRXN1     AU1988302chr2:
51128158-51128158		GAintronicDe novo--Trost2022 G
Yuen2017 G
NRXN1     TASC_211-5211-3chr2:
50464021-50464021		CAexonicUnknownnonsynonymous SNVNM_138735
NM_004801
NM_001135659		c.G347T
c.G3452T
c.G3572T		p.R116I
p.R1151I
p.R1191I		35.0-Wang2020 T
NRXN1     2-1283-003chr2:
52385545-52385545		TAintergenicDe novo--Yuen2017 G
NRXN1     2-1365-003chr2:
51590470-51590470		TGintergenicDe novo--Yuen2017 G
NRXN1     7-0249-003chr2:
52730495-52730495		GAintergenicDe novo--Yuen2017 G
NRXN1     1-0336-004chr2:
51165561-51165561		CTintronicDe novo--Trost2022 G
Yuen2017 G
NRXN1     M27891chr2:
50699492-50699492		GAexonicMaternalnonsynonymous SNVNM_004801
NM_001135659		c.C3188T
c.C3308T		p.P1063L
p.P1103L		33.08.42E-6Guo2018 T
Wang2016 T
NRXN1     JASD_Fam0198chr2:
51255348-51255348		CGexonicDe novononsynonymous SNVNM_001135659
NM_004801		c.G64C
c.G64C		p.G22R
p.G22R		17.59-Takata2018 E
NRXN1     2-0182-003chr2:
52874174-52874174		ATintergenicDe novo--Yuen2017 G
NRXN1     2-0182-003chr2:
52870578-52870578		CTintergenicDe novo--Yuen2017 G
NRXN1     2-0182-003chr2:
52110385-52110385		TGintergenicDe novo--Yuen2017 G
NRXN1     AU4444304chr2:
52699520-52699521		TCTintergenicDe novo--Yuen2017 G
NRXN1     2-0318-004chr2:
51475953-51475953		AGintergenicDe novo--Yuen2017 G
NRXN1     AU2123302chr2:
51560458-51560460		TAATAintergenicDe novo--Yuen2017 G
NRXN1     1-0514-003 Complex Event; expand row to view variants  De novo--Yuen2016 G
Yuen2017 G
NRXN1     2-0318-004chr2:
52739625-52739625		TCintergenicDe novo--Yuen2017 G
NRXN1     A7chr2:
52886316-52886316		GAintergenicDe novo--Wu2018 G
NRXN1     AU4153301chr2:
52282210-52282210		TCintergenicDe novo--Yuen2017 G
NRXN1     2-1085-004chr2:
52923863-52923863		GAintergenicDe novo--Yuen2017 G
NRXN1     2-1283-004chr2:
52385545-52385545		TAintergenicDe novo--Yuen2017 G
NRXN1     2-1283-004chr2:
51838526-51838526		TAintergenicDe novo--Yuen2017 G
NRXN1     1-0180-004chr2:
50948928-50948928		ACintronicDe novo--Trost2022 G
Yuen2017 G
NRXN1     Leuven2_61188249chr2:
50758565-50758565		GTexonicUnknownnonsynonymous SNVNM_004801
NM_001135659		c.C2147A
c.C2267A		p.A716E
p.A756E		33.0-Wang2020 T
NRXN1     Leuven2_60372238chr2:
50758442-50758442		GAexonicUnknownnonsynonymous SNVNM_004801
NM_001135659		c.C2270T
c.C2390T		p.A757V
p.A797V		36.0-Wang2020 T
NRXN1     1-0627-003chr2:
51350758-51350758		GTintergenicDe novo--Yuen2017 G
NRXN1     SanDiego_B8Z4Fchr2:
50692579-50692579		CTsplicingUnknownsplicing22.5-Wang2020 T
NRXN1     Leuven_402553chr2:
50779724-50779724		CTsplicingUnknownsplicing21.0-Wang2020 T
NRXN1     1-0885-003chr2:
51066693-51066693		GTintronicDe novo--Trost2022 G
Yuen2017 G
NRXN1     SSC06325chr2:
50847069-50847069		ACintronicDe novo--Fu2022 E
NRXN1     AU3779304chr2:
50827375-50827375		TCintronicDe novo--Yuen2017 G
NRXN1     7-0080-003chr2:
51163130-51163130		TCintronicDe novo--Trost2022 G
Yuen2017 G
NRXN1     2-1116-003chr2:
52592524-52592524		TGintergenicDe novo--Yuen2016 G
Yuen2017 G
NRXN1     AU4032305chr2:
50287600-50287600		TCintronicDe novo--Trost2022 G
Yuen2017 G
NRXN1     AU063005chr2:
51964606-51964606		AGintergenicDe novo--Yuen2017 G
NRXN1     211-5380-3chr2:
50733692-50733692		CTexonicDe novononsynonymous SNVNM_004801
NM_001135659		c.G2438A
c.G2558A		p.R813H
p.R853H		30.04.247E-5O’Roak2014 T
NRXN1     1-0375-003chr2:
50733692-50733692		CTexonicDe novononsynonymous SNVNM_004801
NM_001135659		c.G2438A
c.G2558A		p.R813H
p.R853H		30.04.247E-5Wang2020 T
Yuen2016 G
NRXN1     AU2433303chr2:
52502378-52502378		GAintergenicDe novo--Yuen2017 G
NRXN1     SAGE_BK742-01chr2:
50699460-50699460		CTexonicUnknownnonsynonymous SNVNM_004801
NM_001135659		c.G3220A
c.G3340A		p.G1074R
p.G1114R		33.0-Wang2020 T
NRXN1     AU4452302chr2:
52903523-52903523		GAintergenicDe novo--Yuen2017 G
NRXN1     AU1355301chr2:
52832144-52832144		CTintergenicDe novo--Yuen2017 G
NRXN1     AU3760302chr2:
50376489-50376489		GAintronicDe novo--Trost2022 G
Yuen2017 G
NRXN1     Husson2020:307chr2:
50850520-50850521		CCCexonicframeshift deletionNM_004801
NM_001135659		c.1065delG
c.1164delG		p.V355fs
p.V388fs		--Husson2020 E
NRXN1     AU3808305chr2:
52237178-52237178		TCintergenicDe novo--Yuen2017 G
NRXN1     AGRE_AU061104chr2:
50755769-50755771		TACTexonicUnknownframeshift deletionNM_004801
NM_001135659		c.2366_2367del
c.2486_2487del		p.C789fs
p.C829fs		--Wang2020 T
NRXN1     AU070007chr2:
52713939-52713939		TGintergenicDe novo--Yuen2017 G
NRXN1     Husson2020::98chr2:
50464056-50464057		CCCexonicDe novoframeshift deletionNM_138735
NM_004801
NM_001135659		c.311delG
c.3416delG
c.3536delG		p.W104fs
p.W1139fs
p.W1179fs		--Husson2020 E
NRXN1     1-0338-005chr2:
50929083-50929083		GAintronicDe novo--Trost2022 G
Yuen2017 G
NRXN1     1-0652-004chr2:
50324588-50324588		GAintronicDe novo--Trost2022 G
Yuen2017 G
NRXN1     AGRE_AU0614312chr2:
50463973-50463973		CTexonicUnknownnonsynonymous SNVNM_138735
NM_004801
NM_001135659		c.G395A
c.G3500A
c.G3620A		p.R132Q
p.R1167Q
p.R1207Q		33.01.657E-5Wang2020 T
NRXN1     AGRE_AU0614212chr2:
50463973-50463973		CTexonicUnknownnonsynonymous SNVNM_138735
NM_004801
NM_001135659		c.G395A
c.G3500A
c.G3620A		p.R132Q
p.R1167Q
p.R1207Q		33.01.657E-5Wang2020 T
NRXN1     7-0160-003chr2:
51493127-51493127		AGintergenicDe novo--Yuen2017 G
NRXN1     TASC_217-14288-4090chr2:
50170866-50170867		AGAexonicDe novoframeshift deletionNM_138735
NM_004801
NM_001135659		c.996delC
c.4101delC
c.4311delC		p.P332fs
p.P1367fs
p.P1437fs		--Wang2020 T
NRXN1     Leuven2_70845110chr2:
50758537-50758537		CTexonicUnknownnonsynonymous SNVNM_004801
NM_001135659		c.G2175A
c.G2295A		p.M725I
p.M765I		34.0-Wang2020 T
NRXN1     Leuven2_69532182chr2:
50779730-50779730		CTexonicUnknownnonsynonymous SNVNM_004801
NM_001135659		c.G1754A
c.G1874A		p.R585Q
p.R625Q		33.0-Wang2020 T
NRXN1     Leuven_386431chr2:
50758537-50758537		CTexonicUnknownnonsynonymous SNVNM_004801
NM_001135659		c.G2175A
c.G2295A		p.M725I
p.M765I		34.0-Wang2020 T
NRXN1     Leuven2_84840610chr2:
50779730-50779730		CTexonicUnknownnonsynonymous SNVNM_004801
NM_001135659		c.G1754A
c.G1874A		p.R585Q
p.R625Q		33.0-Wang2020 T
NRXN1     1-0184-003chr2:
51970389-51970406		CAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAintergenicDe novo--Yuen2017 G
NRXN1     1-0559-004chr2:
51353766-51353766		TAintergenicDe novo--Yuen2017 G
NRXN1     2-0264-004chr2:
51285668-51285668		CAintergenicDe novo--Yuen2017 G
NRXN1     5-0140-003chr2:
50965472-50965472		TGintronicDe novo--Trost2022 G
Yuen2017 G
NRXN1     1-0265-003chr2:
52629760-52629760		GCintergenicDe novo--Yuen2017 G
NRXN1     12060.p1chr2:
51259257-51259258		CGCUTR5De novo--Werling2018 G
Wilfert2021 G
NRXN1     iHART1890chr2:
50780064-50780064		CAexonicPaternalstopgainNM_004801
NM_001135659		c.G1420T
c.G1540T		p.E474X
p.E514X		49.0-Ruzzo2019 G
NRXN1     2-1244-003chr2:
52211719-52211719		CTintergenicDe novo--Yuen2016 G
Yuen2017 G
NRXN1     2-1244-003chr2:
52723344-52723344		CTintergenicDe novo--Yuen2016 G
Yuen2017 G
NRXN1     iHART1889chr2:
50780064-50780064		CAexonicPaternalstopgainNM_004801
NM_001135659		c.G1420T
c.G1540T		p.E474X
p.E514X		49.0-Ruzzo2019 G
NRXN1     AU3964302chr2:
50497740-50497740		GAintronicDe novo--Trost2022 G
Yuen2017 G
NRXN1     1-0144-004chr2:
51365245-51365245		AGintergenicDe novo--Yuen2017 G
NRXN1     AU4235301chr2:
52477997-52477997		TCintergenicDe novo--Yuen2017 G
NRXN1     12501.p1chr2:
50724605-50724605		ATexonicDe novostopgainNM_004801
NM_001135659		c.T2745A
c.T2865A		p.Y915X
p.Y955X		49.0-Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lowther2023 G
O’Roak2014 T
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
Willsey2013 E
Zhou2022 GE
NRXN1     AU3724301chr2:
50450690-50450690		CTintronicDe novo--Trost2022 G
Yuen2017 G
NRXN1     2-1440-003chr2:
51925281-51925281		GAintergenicDe novo--Yuen2016 G
Yuen2017 G
NRXN1     AU3786301chr2:
51009138-51009138		GAintronicDe novo--Yuen2017 G
NRXN1     AU2951303chr2:
50817801-50817801		CTintronicDe novo--Yuen2017 G
NRXN1     1-0279-004chr2:
50635125-50635125		AGintronicDe novo--Trost2022 G
Yuen2017 G
NRXN1     5-0004-003chr2:
52673928-52673928		GTintergenicDe novo--Yuen2017 G
NRXN1     ACGC_SX0014.p1chr2:
50758478-50758478		CTexonicMaternalnonsynonymous SNVNM_004801
NM_001135659		c.G2234A
c.G2354A		p.R745Q
p.R785Q		36.0-Wang2020 T
NRXN1     ACGC_M26820chr2:
50733677-50733677		CTexonicMaternalnonsynonymous SNVNM_004801
NM_001135659		c.G2453A
c.G2573A		p.G818E
p.G858E		33.0-Wang2020 T
NRXN1     AU3858302chr2:
51378469-51378469		CTintergenicDe novo--Yuen2017 G
NRXN1     M23715chr2:
50724685-50724685		CTexonicMaternalnonsynonymous SNVNM_004801
NM_001135659		c.G2665A
c.G2785A		p.D889N
p.D929N		35.0-Guo2018 T
Wang2016 T
NRXN1     ACGC_M27891chr2:
50699492-50699492		GAexonicMaternalnonsynonymous SNVNM_004801
NM_001135659		c.C3188T
c.C3308T		p.P1063L
p.P1103L		33.08.42E-6Wang2020 T
NRXN1     ACGC_M26879chr2:
50723214-50723215		CACexonicMaternalframeshift deletionNM_004801
NM_001135659		c.2898delT
c.3018delT		p.F966fs
p.F1006fs		--Wang2020 T
NRXN1     2-1451-004chr2:
50345418-50345418		TCintronicDe novo--Trost2022 G
Yuen2017 G
NRXN1     1-0901-003chr2:
52338673-52338673		CGintergenicDe novo--Yuen2017 G
NRXN1     2-1497-003chr2:
50656695-50656695		AGintronicDe novo--Trost2022 G
Yuen2017 G
NRXN1     AU002406chr2:
52179326-52179326		TCintergenicDe novo--Yuen2017 G
NRXN1     M26820chr2:
50733677-50733677		CTexonicMaternalnonsynonymous SNVNM_004801
NM_001135659		c.G2453A
c.G2573A		p.G818E
p.G858E		33.0-Guo2018 T
Wang2016 T
NRXN1     1-0559-005chr2:
50318312-50318312		CGintronicDe novo--Yuen2017 G
NRXN1     1-0339-004chr2:
51843463-51843463		AGintergenicDe novo--Yuen2017 G
NRXN1     3-0431-000chr2:
52126740-52126740		AGintergenicDe novo--Yuen2016 G
Yuen2017 G
NRXN1     AU3702307chr2:
51973646-51973646		TAintergenicDe novo--Yuen2017 G
NRXN1     1-0265-004chr2:
52629760-52629760		GCintergenicDe novo--Yuen2017 G
NRXN1     2-1343-003chr2:
50801767-50801767		CAintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
NRXN1     1-0402-004chr2:
51153293-51153293		GCintronicDe novo--Trost2022 G
Yuen2017 G
NRXN1     138chr2:
50280477-50280477		TAexonicPaternalnonsynonymous SNVNM_138735
NM_004801
NM_001135659		c.A865T
c.A3970T
c.A4180T		p.T289S
p.T1324S
p.T1394S		20.22.0E-4Wen2017 E
NRXN1     A1chr2:
52516954-52516954		CAintergenicDe novo--Wu2018 G
NRXN1     M02443chr2:
50724685-50724685		CTexonicPaternalnonsynonymous SNVNM_004801
NM_001135659		c.G2665A
c.G2785A		p.D889N
p.D929N		35.0-Guo2018 T
Wang2016 T
NRXN1     3-0434-000chr2:
51932157-51932157		CAintergenicDe novo--Yuen2016 G
Yuen2017 G
NRXN1     SSC06079chr2:
50699435-50699435		CAsplicingMaternalsplicing24.8-Chan2022 G
NRXN1     IBS-ASD-12793-blood-wgs-ILLUMINAchr2:
50448461-50448461		CAintronicDe novo--Kim2024 G
NRXN1     IBS-ASD-17103-blood-wgs-ILLUMINAchr2:
50384687-50384687		GAintronicDe novo--Kim2024 G
NRXN1     IBS-ASD-6923-blood-wgs-ILLUMINAchr2:
50336385-50336385		TAintronicDe novo--Kim2024 G
NRXN1     IBS-ASD-7553-blood-wgs-ILLUMINAchr2:
50331437-50331437		TCintronicDe novo--Kim2024 G
NRXN1     SF0069869.p1chr2:
50780046-50780046		CGexonicnonsynonymous SNVNM_004801
NM_001135659		c.G1438C
c.G1558C		p.D480H
p.D520H		24.7-Wang2020 T
NRXN1     IBS-ASD-16333-blood-wgs-ILLUMINAchr2:
50296648-50296648		AGintronicDe novo--Kim2024 G
NRXN1     SF0140821.p1chr2:
50779753-50779753		ACexonicnonsynonymous SNVNM_004801
NM_001135659		c.T1731G
c.T1851G		p.H577Q
p.H617Q		17.47-Wang2020 T
NRXN1     IBS-ASD-12893-blood-wgs-ILLUMINAchr2:
50293182-50293182		CTintronicDe novo--Kim2024 G
NRXN1     IBS-ASD-29863-blood-wgs-ILLUMINAchr2:
50164270-50164270		GAintronicDe novo--Kim2024 G
NRXN1     IBS-ASD-18243-blood-wgs-ILLUMINAchr2:
50157497-50157497		GCintronicDe novo--Kim2024 G
NRXN1     2-1315-003chr2:
51585814-51585814		CTintergenicDe novo--Yuen2017 G
NRXN1     IBS-ASD-29663-blood-wgs-ILLUMINAchr2:
50754539-50754539		GAintronicDe novo--Kim2024 G
NRXN1     IBS-ASD-30383-blood-wgs-ILLUMINAchr2:
50705345-50705345		TCintronicDe novo--Kim2024 G
NRXN1     IBS-ASD-18163-blood-wgs-ILLUMINAchr2:
50692054-50692054		GCintronicDe novo--Kim2024 G
NRXN1     IBS-ASD-18163-blood-wgs-ILLUMINAchr2:
50688214-50688214		GCintronicDe novo--Kim2024 G
NRXN1     2-1116-003chr2:
50724817-50724817		GAexonicInheritednonsynonymous SNVNM_004801
NM_001135659		c.C2533T
c.C2653T		p.H845Y
p.H885Y		32.06.0E-4Jiang2013 G
NRXN1     IBS-ASD-18083-blood-wgs-ILLUMINAchr2:
50680721-50680721		CTintronicDe novo--Kim2024 G
NRXN1     IBS-ASD-29843-blood-wgs-ILLUMINAchr2:
50624417-50624417		CAintronicDe novo--Kim2024 G
NRXN1     IBS-ASD-17243-blood-wgs-ILLUMINAchr2:
50559862-50559862		AGintronicDe novo--Kim2024 G
NRXN1     IBS-ASD-5963-blood-wgs-ILLUMINAchr2:
50456309-50456309		TCintronicDe novo--Kim2024 G
NRXN1     IBS-ASD-30223-blood-wgs-ILLUMINAchr2:
50965153-50965153		TCintronicDe novo--Kim2024 G
NRXN1     IBS-ASD-18093-blood-wgs-ILLUMINAchr2:
50921054-50921054		TAintronicDe novo--Kim2024 G
NRXN1     IBS-ASD-35116-blood-wgs-ILLUMINAchr2:
50908984-50908984		CAintronicDe novo--Kim2024 G
NRXN1     IBS-ASD-17363-blood-wgs-ILLUMINAchr2:
50900638-50900638		ACintronicDe novo--Kim2024 G
NRXN1     IBS-ASD-30253-blood-wgs-ILLUMINAchr2:
50889224-50889224		ATintronicDe novo--Kim2024 G
NRXN1     IBS-ASD-12943-blood-wgs-ILLUMINAchr2:
50836840-50836840		AGintronicDe novo--Kim2024 G
NRXN1     Sandoval-Talamantes2023:AUT120chr2:
51255335-51255335		TTGCTexonicnonframeshift insertionNM_001135659
NM_004801		c.76_77insAGC
c.76_77insAGC		p.E26delinsEQ
p.E26delinsEQ		--Sandoval-Talamantes2023 T
NRXN1     IBS-ASD-17583-blood-wgs-ILLUMINAchr2:
50792884-50792884		TAintronicDe novo--Kim2024 G
NRXN1     IBS-ASD-19503-blood-wgs-ILLUMINAchr2:
50756952-50756952		GTintronicDe novo--Kim2024 G
NRXN1     IBS-ASD-35043-blood-wgs-ILLUMINAchr2:
51164058-51164058		CTintronicDe novo--Kim2024 G
NRXN1     IBS-ASD-16063-blood-wgs-ILLUMINAchr2:
51147021-51147021		CTintronicDe novo--Kim2024 G
NRXN1     IBS-ASD-9473-blood-wgs-ILLUMINAchr2:
51132038-51132038		TCintronicDe novo--Kim2024 G
NRXN1     IBS-ASD-17583-blood-wgs-ILLUMINAchr2:
51101184-51101184		GAintronicDe novo--Kim2024 G
NRXN1     IBS-ASD-10433-blood-wgs-ILLUMINAchr2:
51088525-51088525		TCintronicDe novo--Kim2024 G
NRXN1     IBS-ASD-7103-blood-wgs-ILLUMINAchr2:
51080585-51080585		CAintronicDe novo--Kim2024 G
NRXN1     IBS-ASD-18233-blood-wgs-ILLUMINAchr2:
51063827-51063827		AGintronicDe novo--Kim2024 G
NRXN1     AU2089302chr2:
52928210-52928210		TCintergenicDe novo--Yuen2017 G
NRXN1     IBS-ASD-17973-blood-wgs-ILLUMINAchr2:
51008590-51008590		GAintronicDe novo--Kim2024 G
NRXN1     IBS-ASD-17203-blood-wgs-ILLUMINAchr2:
51386764-51386764		ATintergenicDe novo--Kim2024 G
NRXN1     IBS-ASD-17203-blood-wgs-ILLUMINAchr2:
51386078-51386078		AGintergenicDe novo--Kim2024 G
NRXN1     IBS-ASD-16983-blood-wgs-ILLUMINAchr2:
51361064-51361064		CTintergenicDe novo--Kim2024 G
NRXN1     IBS-ASD-15833-blood-wgs-ILLUMINAchr2:
51325158-51325158		GAintergenicDe novo--Kim2024 G
NRXN1     IBS-ASD-9463-blood-wgs-ILLUMINAchr2:
51322069-51322069		AGintergenicDe novo--Kim2024 G
NRXN1     IBS-ASD-17513-blood-wgs-ILLUMINAchr2:
51262054-51262054		TGintergenicDe novo--Kim2024 G
NRXN1     2-1170-003chr2:
51215643-51215643		CTintronicDe novo--Yuen2017 G
NRXN1     IBS-ASD-18193-blood-wgs-ILLUMINAchr2:
51238343-51238343		AGintronicDe novo--Kim2024 G
NRXN1     IBS-ASD-35044-blood-wgs-ILLUMINAchr2:
51164058-51164058		CTintronicDe novo--Kim2024 G
NRXN1     IBS-ASD-17753-blood-wgs-ILLUMINAchr2:
51714855-51714855		CTintergenicDe novo--Kim2024 G
NRXN1     IBS-ASD-9583-blood-wgs-ILLUMINAchr2:
51674526-51674528		CTTCintergenicDe novo--Kim2024 G
NRXN1     IBS-ASD-6173-blood-wgs-ILLUMINAchr2:
51643262-51643262		ACintergenicDe novo--Kim2024 G
NRXN1     IBS-ASD-19503-blood-wgs-ILLUMINAchr2:
51621685-51621685		TCintergenicDe novo--Kim2024 G
NRXN1     IBS-ASD-18323-blood-wgs-ILLUMINAchr2:
51520257-51520257		GAintergenicDe novo--Kim2024 G
NRXN1     IBS-ASD-18403-blood-wgs-ILLUMINAchr2:
51488167-51488167		TCintergenicDe novo--Kim2024 G
NRXN1     IBS-ASD-16443-blood-wgs-ILLUMINAchr2:
51441902-51441902		AGintergenicDe novo--Kim2024 G
NRXN1     IBS-ASD-29623-blood-wgs-ILLUMINAchr2:
51439608-51439608		AGintergenicDe novo--Kim2024 G
NRXN1     IBS-ASD-32823-blood-wgs-ILLUMINAchr2:
52162167-52162167		AGintergenicDe novo--Kim2024 G
NRXN1     IBS-ASD-13053-blood-wgs-ILLUMINAchr2:
52160702-52160702		AGintergenicDe novo--Kim2024 G
NRXN1     IBS-ASD-29443-blood-wgs-ILLUMINAchr2:
52101662-52101662		AGintergenicDe novo--Kim2024 G
NRXN1     IBS-ASD-29963-blood-wgs-ILLUMINAchr2:
51986040-51986040		GAintergenicDe novo--Kim2024 G
NRXN1     IBS-ASD-17463-blood-wgs-ILLUMINAchr2:
51906336-51906336		GAintergenicDe novo--Kim2024 G
NRXN1     08C73161chr2:
51254748-51254748		CAexonicDe novostopgainNM_001135659
NM_004801		c.G664T
c.G664T		p.E222X
p.E222X		47.0-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
NRXN1     IBS-ASD-10503-blood-wgs-ILLUMINAchr2:
51842079-51842079		CTintergenicDe novo--Kim2024 G
NRXN1     IBS-ASD-19223-blood-wgs-ILLUMINAchr2:
51798005-51798005		AGintergenicDe novo--Kim2024 G
NRXN1     IBS-ASD-19133-blood-wgs-ILLUMINAchr2:
51746619-51746619		CAintergenicDe novo--Kim2024 G
NRXN1     IBS-ASD-5303-blood-wgs-ILLUMINAchr2:
52607572-52607572		TCintergenicDe novo--Kim2024 G
NRXN1     AU030103chr2:
51972268-51972268		AGintergenicDe novo--Yuen2017 G
NRXN1     IBS-ASD-5243-blood-wgs-ILLUMINAchr2:
52520453-52520453		GAintergenicDe novo--Kim2024 G
NRXN1     7-0055-003chr2:
52078634-52078634		CTintergenicDe novo--Yuen2017 G
NRXN1     IBS-ASD-6683-blood-wgs-ILLUMINAchr2:
52481301-52481301		CGintergenicDe novo--Kim2024 G
NRXN1     7-0055-003chr2:
52078636-52078636		AGintergenicDe novo--Yuen2017 G
NRXN1     AU4269301chr2:
50606609-50606609		CTintronicDe novo--Trost2022 G
Yuen2017 G
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Paper Information
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Technology
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Design
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The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
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