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Results for "EPHB2"

Variant Events: 45

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
Wang2020 T
Wang2020 T
EPHB2     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
Wang2020 T
EPHB2     5-0106-003chr1:
23148017-23148023
CAAAAAACAAAAAAAintronicDe novo--Yuen2017 G
EPHB2     A19chr1:
23202342-23202342
GAintronicDe novo--Wu2018 G
EPHB2     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
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
Wang2020 T
Wang2020 T
EPHB2     M01563chr1:
23236903-23236903
GAexonicMaternal, Unknownnonsynonymous 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
Wang2020 T
Wang2020 T
Wang2020 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-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
Willsey2013 E
EPHB2     2-1327-004chr1:
23048347-23048347
ACintronicDe novo--Yuen2017 G
EPHB2     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
Wang2020 T
EPHB2     AU3808304chr1:
23091383-23091383
AGintronicDe novo--Yuen2017 G
EPHB2     2-0129-005chr1:
23088680-23088680
TGintronicDe novo--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
--Yuen2017 G
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
Wang2020 T
Wang2020 T
EPHB2     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
Wang2020 T
EPHB2     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
Wang2020 T
EPHB2     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
Wang2020 T
EPHB2     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
Wang2020 T
EPHB2     2K890chr1:
23191755-23191755
GCintronicDe novo--Satterstrom2020 E
EPHB2     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
Wang2020 T
Wang2020 T
EPHB2     1-0286-004chr1:
23174633-23174633
CTintronicDe novo--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
Wang2020 T
Wang2020 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     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
Wang2020 T
EPHB2     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
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
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
EPHB2     2-1505-004chr1:
23195183-23195183
GAintronicDe novo--Yuen2017 G
EPHB2     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
Wang2020 T
EPHB2     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
Wang2020 T
EPHB2     2436chr1:
23240275-23240277
CAGCexonicMaternalframeshift deletionNM_001309193c.3081_3082delp.T1027fs-6.977E-5Wang2020 T
Wang2020 T
EPHB2     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
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
Wang2020 T
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
Wang2020 T
Wang2020 T
EPHB2     M21665chr1:
23240208-23240208
CTexonicUnknownstopgainNM_001309193c.C3013Tp.R1005X31.04.0E-4Wang2016 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
GAexonicPaternal, Unknownnonsynonymous 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
Wang2020 T
Wang2020 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
Wang2020 T
Wang2020 T
Wang2020 T
EPHB2     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
Wang2020 T
EPHB2     1-0279-004chr1:
23081405-23081405
GTintronicDe novo--Yuen2017 G
EPHB2     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
Wang2020 T
EPHB2     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
Wang2020 T
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
Wang2020 T
Wang2020 T
EPHB2     65407330chr1:
23240286-23240286
AAGexonicUnknownframeshift insertionNM_001309193c.3092dupGp.R1031fs--Wang2020 T
Wang2020 T
EPHB2     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
Wang2020 T
EPHB2     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
Wang2020 T
Source Variant Information

, -

Source:

Paper alias:

No records found.
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.
Variant event count
Curation notesView
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