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Results for "EPHB2"

Variant Events: 86

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
EPHB2     220-9874-201chr1:
23237025-23237025		CTexonicUnknownnonsynonymous SNVNM_001309192
NM_001309193
NM_004442
NM_017449		c.C2479T
c.C2653T
c.C2656T
c.C2653T		p.R827C
p.R885C
p.R886C
p.R885C		26.98.278E-6Stessman2017 T
EPHB2     5-0106-003 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
EPHB2     ACGC_M16161chr1:
23235599-23235599		GAexonicUnknownnonsynonymous SNVNM_001309192
NM_001309193
NM_004442
NM_017449		c.G2263A
c.G2437A
c.G2440A
c.G2437A		p.G755S
p.G813S
p.G814S
p.G813S		35.0-Wang2020 T
EPHB2     220-9892-201chr1:
23236902-23236902		CGexonicUnknownnonsynonymous SNVNM_001309192
NM_001309193
NM_004442
NM_017449		c.C2356G
c.C2530G
c.C2533G
c.C2530G		p.R786G
p.R844G
p.R845G
p.R844G		19.71-Stessman2017 T
EPHB2     M01563chr1:
23236903-23236903		GAexonicMaternalnonsynonymous SNVNM_001309192
NM_001309193
NM_004442
NM_017449		c.G2357A
c.G2531A
c.G2534A
c.G2531A		p.R786Q
p.R844Q
p.R845Q
p.R844Q		35.02.479E-5Guo2018 T
Wang2016 T
EPHB2     2-1327-004chr1:
23048347-23048347		ACintronicDe novo--Trost2022 G
Yuen2017 G
EPHB2     AU3808304chr1:
23091383-23091383		AGintronicDe novo--Trost2022 G
Yuen2017 G
EPHB2     1-0382-003chr1:
23110932-23110932		GAexonicDe novosynonymous SNVNM_001309192
NM_001309193
NM_004442
NM_017449		c.G174A
c.G174A
c.G174A
c.G174A		p.T58T
p.T58T
p.T58T
p.T58T		--Trost2022 G
Yuen2017 G
Zhou2022 GE
EPHB2     M16161chr1:
23235599-23235599		GAexonicUnknownnonsynonymous SNVNM_001309192
NM_001309193
NM_004442
NM_017449		c.G2263A
c.G2437A
c.G2440A
c.G2437A		p.G755S
p.G813S
p.G814S
p.G813S		35.0-Guo2018 T
Wang2016 T
EPHB2     ACGC_M01563chr1:
23236903-23236903		GAexonicMaternalnonsynonymous SNVNM_001309192
NM_001309193
NM_004442
NM_017449		c.G2357A
c.G2531A
c.G2534A
c.G2531A		p.R786Q
p.R844Q
p.R845Q
p.R844Q		35.02.479E-5Wang2020 T
EPHB2     Leuven2_60412913chr1:
23236903-23236903		GAexonicUnknownnonsynonymous SNVNM_001309192
NM_001309193
NM_004442
NM_017449		c.G2357A
c.G2531A
c.G2534A
c.G2531A		p.R786Q
p.R844Q
p.R845Q
p.R844Q		35.02.479E-5Wang2020 T
EPHB2     ACGC_M15021chr1:
23238971-23238971		GAexonicPaternalnonsynonymous SNVNM_001309192
NM_001309193
NM_004442
NM_017449		c.G2557A
c.G2731A
c.G2734A
c.G2731A		p.D853N
p.D911N
p.D912N
p.D911N		34.0-Wang2020 T
EPHB2     SanDiego_00668-P9Y2Nchr1:
23238990-23238990		CTexonicUnknownnonsynonymous SNVNM_001309192
NM_001309193
NM_004442
NM_017449		c.C2576T
c.C2750T
c.C2753T
c.C2750T		p.T859M
p.T917M
p.T918M
p.T917M		29.38.237E-6Wang2020 T
EPHB2     Leuven2_67583377chr1:
23236972-23236972		GAexonicUnknownnonsynonymous SNVNM_001309192
NM_001309193
NM_004442
NM_017449		c.G2426A
c.G2600A
c.G2603A
c.G2600A		p.R809H
p.R867H
p.R868H
p.R867H		33.0-Wang2020 T
EPHB2     ACGC_GX0555.p1chr1:
23236954-23236954		AGexonicUnknownnonsynonymous SNVNM_001309192
NM_001309193
NM_004442
NM_017449		c.A2408G
c.A2582G
c.A2585G
c.A2582G		p.D803G
p.D861G
p.D862G
p.D861G		25.2-Wang2020 T
EPHB2     Leuven2_65407330chr1:
23240286-23240286		AAGexonicUnknownframeshift insertionNM_001309193c.3092dupGp.R1031fs--Wang2020 T
EPHB2     DEASD_0337_001chr1:
23233357-23233357		CTexonicDe novosynonymous SNVNM_001309192
NM_001309193
NM_004442
NM_017449		c.C1869T
c.C2043T
c.C2046T
c.C2043T		p.N623N
p.N681N
p.N682N
p.N681N		-8.248E-6DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
EPHB2     2-1505-004chr1:
23195183-23195183		GAintronicDe novo--Trost2022 G
Yuen2017 G
EPHB2     ACGC_HEN437.p1chr1:
23236981-23236981		GAexonicUnknownnonsynonymous SNVNM_001309192
NM_001309193
NM_004442
NM_017449		c.G2435A
c.G2609A
c.G2612A
c.G2609A		p.R812Q
p.R870Q
p.R871Q
p.R870Q		35.0-Wang2020 T
EPHB2     TASC_220-9892-201chr1:
23236902-23236902		CGexonicUnknownnonsynonymous SNVNM_001309192
NM_001309193
NM_004442
NM_017449		c.C2356G
c.C2530G
c.C2533G
c.C2530G		p.R786G
p.R844G
p.R845G
p.R844G		19.71-Wang2020 T
EPHB2     03C16171chr1:
23239013-23239013		ATexonicUnknownnonsynonymous SNVNM_001309192
NM_001309193
NM_004442
NM_017449		c.A2599T
c.A2773T
c.A2776T
c.A2773T		p.I867F
p.I925F
p.I926F
p.I925F		26.7-Stessman2017 T
EPHB2     Leuven2_61520961chr1:
23222921-23222921		GAexonicUnknownnonsynonymous SNVNM_001309193
NM_004442
NM_017449		c.G1715A
c.G1718A
c.G1715A		p.R572H
p.R573H
p.R572H		22.14.947E-5Wang2020 T
EPHB2     Leuven2_60987690chr1:
23219500-23219500		CTexonicUnknownnonsynonymous SNVNM_001309192
NM_001309193
NM_004442
NM_017449		c.C1552T
c.C1552T
c.C1552T
c.C1552T		p.R518C
p.R518C
p.R518C
p.R518C		27.62.476E-5Wang2020 T
EPHB2     AGRE_03C16171chr1:
23239013-23239013		ATexonicUnknownnonsynonymous SNVNM_001309192
NM_001309193
NM_004442
NM_017449		c.A2599T
c.A2773T
c.A2776T
c.A2773T		p.I867F
p.I925F
p.I926F
p.I925F		26.7-Wang2020 T
EPHB2     M15021chr1:
23238971-23238971		GAexonicPaternalnonsynonymous SNVNM_001309192
NM_001309193
NM_004442
NM_017449		c.G2557A
c.G2731A
c.G2734A
c.G2731A		p.D853N
p.D911N
p.D912N
p.D911N		34.0-Guo2018 T
Stessman2017 T
Wang2016 T
EPHB2     ACGC_HEN0160.p1chr1:
23236954-23236954		AGexonicUnknownnonsynonymous SNVNM_001309192
NM_001309193
NM_004442
NM_017449		c.A2408G
c.A2582G
c.A2585G
c.A2582G		p.D803G
p.D861G
p.D862G
p.D861G		25.2-Wang2020 T
EPHB2     ACGC_3433chr1:
23189634-23189634		CTexonicUnknownnonsynonymous SNVNM_001309192
NM_001309193
NM_004442
NM_017449		c.C916T
c.C916T
c.C916T
c.C916T		p.R306C
p.R306C
p.R306C
p.R306C		24.3-Wang2020 T
EPHB2     AGRE_AU057904chr1:
23239013-23239013		ATexonicUnknownnonsynonymous SNVNM_001309192
NM_001309193
NM_004442
NM_017449		c.A2599T
c.A2773T
c.A2776T
c.A2773T		p.I867F
p.I925F
p.I926F
p.I925F		26.7-Wang2020 T
EPHB2     ACGC_HEN0155.p1chr1:
23239966-23239966		GAexonicUnknownnonsynonymous SNVNM_001309192
NM_001309193
NM_004442
NM_017449		c.G2690A
c.G2864A
c.G2867A
c.G2864A		p.R897Q
p.R955Q
p.R956Q
p.R955Q		26.98.281E-6Wang2020 T
EPHB2     TASC_220-9874-201chr1:
23237025-23237025		CTexonicUnknownnonsynonymous SNVNM_001309192
NM_001309193
NM_004442
NM_017449		c.C2479T
c.C2653T
c.C2656T
c.C2653T		p.R827C
p.R885C
p.R886C
p.R885C		26.98.278E-6Wang2020 T
EPHB2     Gecz2_32529chr1:
23189598-23189598		CTexonicUnknownnonsynonymous SNVNM_001309192
NM_001309193
NM_004442
NM_017449		c.C880T
c.C880T
c.C880T
c.C880T		p.R294W
p.R294W
p.R294W
p.R294W		21.52.471E-5Wang2020 T
EPHB2     Gecz1_26824chr1:
23189598-23189598		CTexonicUnknownnonsynonymous SNVNM_001309192
NM_001309193
NM_004442
NM_017449		c.C880T
c.C880T
c.C880T
c.C880T		p.R294W
p.R294W
p.R294W
p.R294W		21.52.471E-5Wang2020 T
EPHB2     ACGC_GX0520.p1chr1:
23233308-23233308		GAexonicUnknownnonsynonymous SNVNM_001309192
NM_001309193
NM_004442
NM_017449		c.G1820A
c.G1994A
c.G1997A
c.G1994A		p.R607Q
p.R665Q
p.R666Q
p.R665Q		36.08.242E-6Wang2020 T
EPHB2     M03823chr1:
23111426-23111426		GAexonicPaternalnonsynonymous SNVNM_001309192
NM_001309193
NM_004442
NM_017449		c.G668A
c.G668A
c.G668A
c.G668A		p.R223Q
p.R223Q
p.R223Q
p.R223Q		33.01.657E-5Guo2018 T
Wang2016 T
EPHB2     HN0043.p1chr1:
23235564-23235564		GAexonicPaternalnonsynonymous SNVNM_001309192
NM_001309193
NM_004442
NM_017449		c.G2228A
c.G2402A
c.G2405A
c.G2402A		p.R743Q
p.R801Q
p.R802Q
p.R801Q		37.03.296E-5Guo2018 T
EPHB2     ACGC_HN0142.p1chr1:
23110999-23110999		CTexonicUnknownnonsynonymous SNVNM_001309192
NM_001309193
NM_004442
NM_017449		c.C241T
c.C241T
c.C241T
c.C241T		p.R81C
p.R81C
p.R81C
p.R81C		18.91.651E-5Wang2020 T
EPHB2     AU057904chr1:
23239013-23239013		ATexonicUnknownnonsynonymous SNVNM_001309192
NM_001309193
NM_004442
NM_017449		c.A2599T
c.A2773T
c.A2776T
c.A2773T		p.I867F
p.I925F
p.I926F
p.I925F		26.7-Stessman2017 T
EPHB2     ACGC_GD0090.p1chr1:
23235518-23235518		GAexonicUnknownnonsynonymous SNVNM_001309192
NM_001309193
NM_004442
NM_017449		c.G2182A
c.G2356A
c.G2359A
c.G2356A		p.G728R
p.G786R
p.G787R
p.G786R		19.028.261E-6Wang2020 T
EPHB2     1-0279-004chr1:
23081405-23081405		GTintronicDe novo--Yuen2017 G
EPHB2     ACGC_SX0036.p1chr1:
23233379-23233379		GAexonicUnknownnonsynonymous SNVNM_001309192
NM_001309193
NM_004442
NM_017449		c.G1891A
c.G2065A
c.G2068A
c.G2065A		p.V631M
p.V689M
p.V690M
p.V689M		27.83.306E-5Wang2020 T
EPHB2     Gecz3_41457chr1:
23240208-23240208		CTexonicUnknownstopgainNM_001309193c.C3013Tp.R1005X31.04.0E-4Wang2020 T
EPHB2     Gecz3_40564chr1:
23240208-23240208		CTexonicUnknownstopgainNM_001309193c.C3013Tp.R1005X31.04.0E-4Wang2020 T
EPHB2     SAGE_BK733-01chr1:
23234614-23234614		CTexonicMaternalnonsynonymous SNVNM_001309192
NM_001309193
NM_004442
NM_017449		c.C2131T
c.C2305T
c.C2308T
c.C2305T		p.R711C
p.R769C
p.R770C
p.R769C		33.01.647E-5Wang2020 T
EPHB2     Gecz3_36201chr1:
23222908-23222908		CTexonicUnknownnonsynonymous SNVNM_001309193
NM_004442
NM_017449		c.C1702T
c.C1705T
c.C1702T		p.R568W
p.R569W
p.R568W		25.11.0E-4Wang2020 T
EPHB2     ITAN_2619chr1:
23234491-23234491		CTexonicMaternalnonsynonymous SNVNM_001309192
NM_001309193
NM_004442
NM_017449		c.C2008T
c.C2182T
c.C2185T
c.C2182T		p.R670W
p.R728W
p.R729W
p.R728W		18.93-Wang2020 T
EPHB2     ACGC_HEN508.p1chr1:
23233448-23233448		CTexonicUnknownnonsynonymous SNVNM_001309192
NM_001309193
NM_004442
NM_017449		c.C1960T
c.C2134T
c.C2137T
c.C2134T		p.R654W
p.R712W
p.R713W
p.R712W		18.381.772E-5Wang2020 T
EPHB2     ACGC_SD0083.p1chr1:
23191460-23191460		GAexonicMaternalnonsynonymous SNVNM_001309192
NM_001309193
NM_004442
NM_017449		c.G1058A
c.G1058A
c.G1058A
c.G1058A		p.R353Q
p.R353Q
p.R353Q
p.R353Q		34.0-Wang2020 T
EPHB2     Courchesne_00823-S9R6Vchr1:
23240208-23240208		CTexonicUnknownstopgainNM_001309193c.C3013Tp.R1005X31.04.0E-4Wang2020 T
EPHB2     AGRE_07C70167chr1:
23111012-23111012		GAexonicMaternalnonsynonymous SNVNM_001309192
NM_001309193
NM_004442
NM_017449		c.G254A
c.G254A
c.G254A
c.G254A		p.R85H
p.R85H
p.R85H
p.R85H		32.0-Wang2020 T
EPHB2     Gecz1_3455chr1:
23222908-23222908		CTexonicUnknownnonsynonymous SNVNM_001309193
NM_004442
NM_017449		c.C1702T
c.C1705T
c.C1702T		p.R568W
p.R569W
p.R568W		25.11.0E-4Wang2020 T
EPHB2     A19chr1:
23202342-23202342		GAintronicDe novo--Wu2018 G
EPHB2     ACGC_HN0043.p1chr1:
23235564-23235564		GAexonicPaternalnonsynonymous SNVNM_001309192
NM_001309193
NM_004442
NM_017449		c.G2228A
c.G2402A
c.G2405A
c.G2402A		p.R743Q
p.R801Q
p.R802Q
p.R801Q		37.03.296E-5Wang2020 T
EPHB2     13128_p1chr1:
23236941-23236941		CTexonicDe novostopgainNM_001309192
NM_001309193
NM_004442
NM_017449		c.C2395T
c.C2569T
c.C2572T
c.C2569T		p.Q799X
p.Q857X
p.Q858X
p.Q857X		39.0-Fu2022 E
EPHB2     13128.p1chr1:
23236941-23236941		CTexonicUnknown, De novostopgainNM_001309192
NM_001309193
NM_004442
NM_017449		c.C2395T
c.C2569T
c.C2572T
c.C2569T		p.Q799X
p.Q857X
p.Q858X
p.Q857X		39.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Wang2020 T
Wilfert2021 G
Willsey2013 E
Zhou2022 GE
EPHB2     Gecz3_35944chr1:
23233412-23233412		GAexonicUnknownnonsynonymous SNVNM_001309192
NM_001309193
NM_004442
NM_017449		c.G1924A
c.G2098A
c.G2101A
c.G2098A		p.E642K
p.E700K
p.E701K
p.E700K		36.0-Wang2020 T
EPHB2     Gecz4_47551chr1:
23233412-23233412		GAexonicUnknownnonsynonymous SNVNM_001309192
NM_001309193
NM_004442
NM_017449		c.G1924A
c.G2098A
c.G2101A
c.G2098A		p.E642K
p.E700K
p.E701K
p.E700K		36.0-Wang2020 T
EPHB2     2-0129-005chr1:
23088680-23088680		TGintronicDe novo--Trost2022 G
Yuen2017 G
EPHB2     SAGE_BK847-01chr1:
23233326-23233326		CGexonicMaternalnonsynonymous SNVNM_001309192
NM_001309193
NM_004442
NM_017449		c.C1838G
c.C2012G
c.C2015G
c.C2012G		p.A613G
p.A671G
p.A672G
p.A671G		34.0-Wang2020 T
EPHB2     2K890chr1:
23191755-23191755		GCintronicDe novo--Satterstrom2020 E
Trost2022 G
EPHB2     1-0286-004chr1:
23174633-23174633		CTintronicDe novo--Trost2022 G
Yuen2017 G
EPHB2     SD0083.p1chr1:
23191460-23191460		GAexonicMaternalnonsynonymous SNVNM_001309192
NM_001309193
NM_004442
NM_017449		c.G1058A
c.G1058A
c.G1058A
c.G1058A		p.R353Q
p.R353Q
p.R353Q
p.R353Q		34.0-Guo2018 T
EPHB2     Uddin2014:14chr1:
23236941-23236941		CTexonicDe novostopgainNM_001309192
NM_001309193
NM_004442
NM_017449		c.C2395T
c.C2569T
c.C2572T
c.C2569T		p.Q799X
p.Q857X
p.Q858X
p.Q857X		39.0-Uddin2014 E
EPHB2     SP0126666chr1:
23219555-23219555		CTintronicDe novo-3.32E-5Fu2022 E
Trost2022 G
EPHB2     1-0969-003chr1:
23064328-23064328		CGintronicDe novo--Trost2022 G
EPHB2     SP0105308chr1:
23111448-23111448		GAexonicDe novosynonymous SNVNM_001309192
NM_001309193
NM_004442
NM_017449		c.G690A
c.G690A
c.G690A
c.G690A		p.A230A
p.A230A
p.A230A
p.A230A		-4.137E-5Fu2022 E
Trost2022 G
Zhou2022 GE
EPHB2     5-1043-003chr1:
23039219-23039219		GTintronicDe novo--Trost2022 G
EPHB2     MSSNG00021-004chr1:
23077456-23077456		GTintronicDe novo--Trost2022 G
EPHB2     AU2504301chr1:
23068965-23068969		ACTTCAintronicDe novo--Trost2022 G
EPHB2     SP0074540chr1:
23111353-23111353		CTexonicDe novononsynonymous SNVNM_001309192
NM_001309193
NM_004442
NM_017449		c.C595T
c.C595T
c.C595T
c.C595T		p.R199C
p.R199C
p.R199C
p.R199C		16.45-Fu2022 E
Trost2022 G
Zhou2022 GE
EPHB2     2-1729-003chr1:
23118062-23118062		GCintronicDe novo--Trost2022 G
EPHB2     M21665chr1:
23240208-23240208		CTexonicUnknownstopgainNM_001309193c.C3013Tp.R1005X31.04.0E-4Wang2016 T
EPHB2     1-0672-003chr1:
23116751-23116751		GAintronicDe novo--Trost2022 G
EPHB2     7-0130-003chr1:
23131186-23131186		GAintronicDe novo--Trost2022 G
EPHB2     MSSNG00098-004chr1:
23130105-23130105		ATintronicDe novo--Trost2022 G
EPHB2     2-1322-003chr1:
23088676-23088676		GGCintronicDe novo--Trost2022 G
EPHB2     MT_18.3chr1:
23084228-23084228		ACintronicDe novo--Trost2022 G
EPHB2     3-0017-000chr1:
23091182-23091182		ATintronicDe novo--Trost2022 G
EPHB2     2-1322-003chr1:
23088680-23088680		TGintronicDe novo--Trost2022 G
EPHB2     ITAN_2436chr1:
23240275-23240277		CAGCexonicMaternalframeshift deletionNM_001309193c.3081_3082delp.T1027fs-6.977E-5Wang2020 T
EPHB2     MSSNG00369-003chr1:
23227043-23227043		CTintronicDe novo--Trost2022 G
EPHB2     07C70167chr1:
23111012-23111012		GAexonicMaternalnonsynonymous SNVNM_001309192
NM_001309193
NM_004442
NM_017449		c.G254A
c.G254A
c.G254A
c.G254A		p.R85H
p.R85H
p.R85H
p.R85H		32.0-Stessman2017 T
EPHB2     MSSNG00254-003chr1:
23220993-23220993		GAintronicDe novo--Trost2022 G
EPHB2     14-591chr1:
23157392-23157392		CTintronicDe novo--Trost2022 G
EPHB2     3-0459-000chr1:
23144722-23144722		GAintronicDe novo--Trost2022 G
EPHB2     1-1036-003chr1:
23209818-23209818		GTintronicDe novo--Trost2022 G
EPHB2     3-0826-000chr1:
23200049-23200049		GAintronicDe novo--Trost2022 G
Source Variant Information

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Paper alias:

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Paper Information
Title
Authors
Technology
Variant source
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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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