Variant Results

or

or

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

2-0162-003

chr7:
100403501-100403501

G

C

intronic

De novo

-

-

Trost2022 G

EPHB4

14370.p1

chr7:
100401793-100401793

G

A

intronic

De novo

-

-

Turner2016 G

EPHB4

F1730-1

chr7:
100402958-100402958

T

C

intronic

De novo

-

-

Satterstrom2020 E
Trost2022 G

EPHB4

14370.p1

chr7:
100401791-100401791

T

G

intronic

De novo

-

-

Turner2016 G

EPHB4

11109.p1

chr7:
100417478-100417478

C

T

exonic

nonsynonymous SNV

NM_004444

c.G998A

p.R333H

13.7

-

Zhou2022 GE

EPHB4

SP0043196

chr7:
100405143-100405143

C

T

exonic

De novo

synonymous SNV

NM_004444

c.G2178A

p.S726S

-

Fu2022 E
Trost2022 G
Zhou2022 GE

EPHB4

REACH000731

chr7:
100435493-100435493

T

G

intergenic

De novo

-

-

Trost2022 G

EPHB4

REACH000078

chr7:
100415132-100415132

G

A

intronic

De novo

-

-

Trost2022 G

EPHB4

SP0176014

chr7:
100421830-100421830

C

T

exonic

De novo

nonsynonymous SNV

NM_004444

c.G118A

p.G40R

18.54

Trost2022 G

EPHB4

161296

chr7:
100416268-100416268

T

C

splicing

De novo

splicing

13.34

-

Fu2022 E

EPHB4

1-0010-003

chr7:
100402776-100402776

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

EPHB4

SP0079350

chr7:
100421603-100421603

G

A

intronic

De novo

-

-

Fu2022 E
Trost2022 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 notes	View
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