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Results for "SPEN"

Variant Events: 47

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
SPEN     SanDiego_T3Z4Uchr1:
16255694-16255694		CTexonicUnknownnonsynonymous SNVNM_015001c.C2959Tp.R987C15.831.659E-5Wang2020 T
SPEN     ACGC_HEN0044.p1chr1:
16255347-16255347		GAexonicUnknownnonsynonymous SNVNM_015001c.G2612Ap.R871H17.141.649E-5Wang2020 T
SPEN     Leuven_284010chr1:
16259693-16259694		GAGexonicDe novoframeshift deletionNM_015001c.6959delAp.E2320fs--Wang2020 T
SPEN     ACGC_M12425chr1:
16259730-16259730		GAexonicUnknownnonsynonymous SNVNM_015001c.G6995Ap.R2332H14.72.483E-5Wang2020 T
SPEN     12120.p1chr1:
16257386-16257386		GAexonicUnknown, De novononsynonymous SNVNM_015001c.G4651Ap.E1551K19.83-Ji2016 E
Krumm2015 E
Wang2020 T
Zhou2022 GE
SPEN     1-0467-003chr1:
16185025-16185025		AGintronicDe novo--Trost2022 G
Yuen2017 G
SPEN     AGRE_03C17014chr1:
16258268-16258268		GAexonicUnknownnonsynonymous SNVNM_015001c.G5533Ap.E1845K21.98.239E-6Wang2020 T
SPEN     DEASD_4030_001chr1:
16259042-16259042		AAGexonicDe novoframeshift insertionNM_015001c.6308dupGp.R2103fs--Fu2022 E
SPEN     AGRE_03C16810chr1:
16202818-16202818		CTexonicUnknownnonsynonymous SNVNM_015001c.C526Tp.R176W17.078.241E-6Wang2020 T
SPEN     APP_108130-100chr1:
16247429-16247429		CAexonicUnknownnonsynonymous SNVNM_015001c.C1700Ap.A567E24.71.667E-5Wang2020 T
SPEN     AGRE_03C17015chr1:
16258268-16258268		GAexonicUnknownnonsynonymous SNVNM_015001c.G5533Ap.E1845K21.98.239E-6Wang2020 T
SPEN     Lim2017:68663chr1:
16261227-16261227		GCexonicDe novononsynonymous SNVNM_015001c.G8492Cp.S2831T14.28-Lim2017 E
SPEN     ACGC_HEN0229.p1chr1:
16242758-16242758		GAexonicPaternalnonsynonymous SNVNM_015001c.G1379Ap.R460H19.49-Wang2020 T
SPEN     ACGC_GX0482.p1chr1:
16235857-16235857		GTexonicPaternalnonsynonymous SNVNM_015001c.G923Tp.R308L15.83-Wang2020 T
SPEN     AU226Achr1:
16235920-16235920		ACexonicUnknown, De novononsynonymous SNVNM_015001c.A986Cp.D329A17.83-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wang2020 T
Zhou2022 GE
SPEN     AGRE_04C23871chr1:
16247378-16247378		GAexonicUnknownnonsynonymous SNVNM_015001c.G1649Ap.R550H34.04.186E-5Wang2020 T
SPEN     AGRE_04C23859chr1:
16247378-16247378		GAexonicUnknownnonsynonymous SNVNM_015001c.G1649Ap.R550H34.04.186E-5Wang2020 T
SPEN     SP0143782chr1:
16254872-16254872		CTexonicDe novononsynonymous SNVNM_015001c.C2137Tp.R713W15.025.781E-5Fu2022 E
Trost2022 G
Zhou2022 GE
SPEN     AGRE_04C35443chr1:
16247378-16247378		GAexonicUnknownnonsynonymous SNVNM_015001c.G1649Ap.R550H34.04.186E-5Wang2020 T
SPEN     ACGC_SD0326.p1chr1:
16265790-16265790		GAsplicingPaternalsplicing10.63-Wang2020 T
SPEN     ACGC_HEN506.p1chr1:
16255164-16255164		GAexonicPaternalnonsynonymous SNVNM_015001c.G2429Ap.R810Q20.61.0E-4Wang2020 T
SPEN     2-1166-003chr1:
16258127-16258127		CTexonicDe novostopgainNM_015001c.C5392Tp.Q1798X41.0-Trost2022 G
Wang2020 T
Yuen2016 G
Yuen2017 G
Zhou2022 GE
SPEN     ACGC_GD0139.p1chr1:
16202752-16202752		CTexonicMaternalnonsynonymous SNVNM_015001c.C460Tp.R154W19.671.649E-5Wang2020 T
SPEN     2-1286-003chr1:
16192887-16192888		TTCGintronicDe novo--Trost2022 G
SPEN     2-1286-003chr1:
16192872-16192873		ACGGintronicDe novo--Trost2022 G
SPEN     Husson2020:168chr1:
16259967-16259967		CAexonicDe novostopgainNM_015001c.C7232Ap.S2411X44.0-Husson2020 E
SPEN     Leuven2_84887124chr1:
16257172-16257176		TAAAGTexonicUnknownframeshift deletionNM_015001c.4438_4441delp.K1480fs--Wang2020 T
SPEN     REACH000198chr1:
16182785-16182785		AGintronicDe novo--Trost2022 G
SPEN     SJD_10.3chr1:
16177552-16177552		GAintronicDe novo--Trost2022 G
SPEN     11160_p1chr1:
16255762-16255762		GGAexonicDe novoframeshift insertionNM_015001c.3027_3028insAp.M1009fs--Fu2022 E
SPEN     ACGC_GX0373.p1chr1:
16263932-16263932		CTexonicUnknownnonsynonymous SNVNM_015001c.C10301Tp.P3434L17.34-Wang2020 T
SPEN     68663chr1:
16261227-16261227		GCexonicDe novononsynonymous SNVNM_015001c.G8492Cp.S2831T14.28-Fu2022 E
Trost2022 G
SPEN     ACGC_SX0058.p1chr1:
16247432-16247432		CTexonicUnknownnonsynonymous SNVNM_015001c.C1703Tp.A568V27.2-Wang2020 T
SPEN     08C74427chr1:
16199450-16199450		CTexonicDe novononsynonymous SNVNM_015001c.C223Tp.R75C14.87-Fu2022 E
SPEN     SP0026651chr1:
16247448-16247448		AGexonicDe novosynonymous SNVNM_015001c.A1719Gp.K573K--Trost2022 G
SPEN     1-1037-003chr1:
16241819-16241819		TTGintronicDe novo--Trost2022 G
SPEN     JASD_Fam0233chr1:
16262656-16262656		GCexonicDe novosynonymous SNVNM_015001c.G9921Cp.R3307R--Takata2018 E
SPEN     TASC_211-5219-3chr1:
16258127-16258127		CTexonicUnknownstopgainNM_015001c.C5392Tp.Q1798X41.0-Wang2020 T
SPEN     SF0143782.p1chr1:
16254872-16254872		CTexonicnonsynonymous SNVNM_015001c.C2137Tp.R713W15.025.781E-5Wang2020 T
SPEN     ACGC_SD0024.p1chr1:
16257536-16257536		GAexonicUnknownnonsynonymous SNVNM_015001c.G4801Ap.D1601N16.63-Wang2020 T
SPEN     AGRE_03C16809chr1:
16202818-16202818		CTexonicUnknownnonsynonymous SNVNM_015001c.C526Tp.R176W17.078.241E-6Wang2020 T
SPEN     2-1376-003chr1:
16191619-16191633		TTACCGCAACCTCCGTintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
SPEN     ASC_18D977chr1:
16260298-16260298		CAexonicDe novononsynonymous SNVNM_015001c.C7563Ap.D2521E13.96-Fu2022 E
SPEN     12457.p1chr1:
16259485-16259485		CTexonicsynonymous SNVNM_015001c.C6750Tp.P2250P-1.0E-4Zhou2022 GE
SPEN     11160.p1 Complex Event; expand row to view variants  Unknown, De novononsynonymous SNV, frameshift insertion, frameshift substitutionNM_015001
NM_015001
NM_015001
NM_015001		c.G3028A
c.3027_3028insA
c.3029dupA
c.3028_3028delinsAA		p.E1010K
p.M1009fs
p.E1010fs
N/A		11.3-Iossifov2014 E
Iossifov2014 E
Ji2016 E
Ji2016 E
Kosmicki2017 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Wang2020 T
Zhou2022 GE
SPEN     08C73928chr1:
16263724-16263724		CTexonicDe novononsynonymous SNVNM_015001c.C10093Tp.P3365S2.075-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
SPEN     12072.p1chr1:
16261227-16261227		GCexonicUnknown, De novononsynonymous SNVNM_015001c.G8492Cp.S2831T14.28-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
Zhou2022 GE
Source Variant Information

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Paper Information
Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count
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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