or
or
Exact

Results for "EPHB1"

Variant Events: 53

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
EPHB1     1-0597-003chr3:
135473464-135473464
GAintergenicDe novo--Yuen2017 G
EPHB1     SSC05396chr3:
134968233-134968233
GAexonicDe novononsynonymous SNVNM_004441c.G2746Ap.V916M32.02.49E-5Lim2017 E
EPHB1     1-0627-007chr3:
135205276-135205276
ATintergenicDe novo--Yuen2017 G
EPHB1     2-0022-003chr3:
135012495-135012495
GCintergenicDe novo--Yuen2017 G
EPHB1     AU047704chr3:
134814608-134814608
CGintronicDe novo--Yuen2017 G
EPHB1     13918.p1chr3:
134825572-134825573
GTGintronicDe novo--Wilfert2021 G
EPHB1     2-1437-003chr3:
135623387-135623389
CAGCintergenicDe novo--Yuen2017 G
EPHB1     5-0014-003chr3:
134556177-134556177
AGintronicDe novo--Yuen2017 G
EPHB1     AU1668302chr3:
135415713-135415713
CAintergenicDe novo--Yuen2017 G
EPHB1     5-0147-003chr3:
135008082-135008082
TGintergenicDe novo--Yuen2017 G
EPHB1     DEASD_0060_001chr3:
134968172-134968172
CTintronicDe novo--Kosmicki2017 E
Satterstrom2020 E
EPHB1     AU051503chr3:
134872034-134872034
CTintronicDe novo--Yuen2017 G
EPHB1     AU3610302chr3:
135313821-135313847
CAAAAACAAAAAAAAAAACAAAAAAAACAAAAAintergenicDe novo--Yuen2017 G
EPHB1     13748.p1chr3:
134959990-134959990
GAexonicDe novononsynonymous SNVNM_004441c.G2347Ap.G783R24.6-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
EPHB1     12673.p1chr3:
134968233-134968233
GAexonicDe novononsynonymous SNVNM_004441c.G2746Ap.V916M32.02.49E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
EPHB1     1-0112-004chr3:
135029348-135029348
AGintergenicDe novo--Yuen2017 G
EPHB1     2-1089-003chr3:
135328708-135328708
CTintergenicDe novo--Yuen2017 G
EPHB1     1-0381-003chr3:
134936318-134936336
GGAGAGAGAGAGAGAGAGAGGAGAGAGAGAGAGAGAintronicDe novo--Yuen2017 G
EPHB1     2-1131-003chr3:
134656434-134656434
CTintronicDe novo--Yuen2016 G
Yuen2017 G
EPHB1     2-1644-004chr3:
135339171-135339171
TCintergenicDe novo--Yuen2017 G
EPHB1     AU2089301chr3:
135671404-135671404
GTintergenicDe novo--Yuen2017 G
EPHB1     2-0145-003chr3:
135515608-135515608
GAintergenicDe novo--Yuen2017 G
EPHB1     AU4284301chr3:
135478509-135478509
CTintergenicDe novo--Yuen2017 G
EPHB1     14642.p1chr3:
135337226-135337226
CAintergenicDe novo--Turner2016 G
EPHB1     AU3807302chr3:
134806582-134806582
GAintronicDe novo--Yuen2017 G
EPHB1     11456.p1chr3:
135630269-135630269
AGintergenicDe novo--Turner2016 G
EPHB1     2-0109-003chr3:
135532710-135532710
CTintergenicDe novo--Yuen2017 G
EPHB1     A9chr3:
134758996-134758996
CGintronicDe novo--Wu2018 G
EPHB1     AU024004chr3:
135142104-135142104
GCintergenicDe novo--Yuen2017 G
EPHB1     1-0259-005chr3:
134687725-134687726
TATintronicDe novo--Yuen2017 G
EPHB1     AU050910chr3:
134965755-134965755
TGintronicDe novo--Yuen2017 G
EPHB1     AU4060306chr3:
134677848-134677848
CGintronicDe novo--Yuen2017 G
EPHB1     2-0318-003chr3:
135638868-135638868
AGintergenicDe novo--Yuen2017 G
EPHB1     2-1442-003chr3:
135545969-135545969
ACintergenicDe novo--Yuen2017 G
EPHB1     7-0130-003chr3:
135425572-135425572
CTintergenicDe novo--Yuen2017 G
EPHB1     1-0246-005chr3:
135206147-135206147
TGintergenicDe novo--Yuen2017 G
EPHB1     AU3888302chr3:
135037131-135037131
ACintergenicDe novo--Yuen2017 G
EPHB1     AU3725302chr3:
135221758-135221758
TCintergenicDe novo--Yuen2017 G
EPHB1     2-0214-003chr3:
135551799-135551799
CTintergenicDe novo--Yuen2017 G
EPHB1     1-1004-003chr3:
135584747-135584747
ATintergenicDe novo--Yuen2017 G
EPHB1     2-1373-003chr3:
135519758-135519758
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
EPHB1     1701001chr3:
134885799-134885801
CAACexonicDe novoframeshift deletionNM_004441c.1711_1712delp.K571fs--Satterstrom2020 E
EPHB1     7-0024-005chr3:
135300360-135300360
TGintergenicDe novo--Yuen2017 G
EPHB1     2-0272-003chr3:
134535242-134535242
TCintronicDe novo--Yuen2017 G
EPHB1     1-0629-003chr3:
135059074-135059074
AGintergenicDe novo--Yuen2017 G
EPHB1     AU054103chr3:
135563385-135563385
ATintergenicDe novo--Yuen2017 G
EPHB1     1-0153-004chr3:
135353992-135353992
CTintergenicDe novo--Yuen2017 G
EPHB1     1-0965-003chr3:
135487549-135487549
TCintergenicDe novo--Yuen2017 G
EPHB1     2-0319-003chr3:
134689343-134689343
TCintronicDe novo--Yuen2017 G
EPHB1     2-1105-003chr3:
134923206-134923206
TAintronicDe novo--Yuen2016 G
Yuen2017 G
EPHB1     AU050403chr3:
134700256-134700256
CTintronicDe novo--Yuen2017 G
EPHB1     7-0183-003chr3:
135663378-135663378
CTintergenicDe novo--Yuen2017 G
EPHB1     2-0238-003chr3:
134710223-134710223
GTintronicDe novo--Yuen2017 G
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
More