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Results for "EPHB4"

Variant Events: 12

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
EPHB4     161296chr7:
100416268-100416268
TCsplicingDe novosplicing13.34-Fu2022 E
EPHB4     1-0010-003chr7:
100402776-100402776
GAintronicDe novo--Trost2022 G
Yuen2017 G
EPHB4     2-0162-003chr7:
100403501-100403501
GCintronicDe novo--Trost2022 G
EPHB4     14370.p1chr7:
100401793-100401793
GAintronicDe novo--Turner2016 G
EPHB4     SP0079350chr7:
100421603-100421603
GAintronicDe novo--Fu2022 E
Trost2022 G
EPHB4     F1730-1chr7:
100402958-100402958
TCintronicDe novo--Satterstrom2020 E
Trost2022 G
EPHB4     14370.p1chr7:
100401791-100401791
TGintronicDe novo--Turner2016 G
EPHB4     11109.p1chr7:
100417478-100417478
CTexonicnonsynonymous SNVNM_004444c.G998Ap.R333H13.7-Zhou2022 GE
EPHB4     SP0043196chr7:
100405143-100405143
CTexonicDe novosynonymous SNVNM_004444c.G2178Ap.S726S-6.595E-5Fu2022 E
Trost2022 G
Zhou2022 GE
EPHB4     REACH000731chr7:
100435493-100435493
TGintergenicDe novo--Trost2022 G
EPHB4     REACH000078chr7:
100415132-100415132
GAintronicDe novo--Trost2022 G
EPHB4     SP0176014chr7:
100421830-100421830
CTexonicDe novononsynonymous SNVNM_004444c.G118Ap.G40R18.548.239E-6Trost2022 G
Source Variant Information

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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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