Variant Results

or

or

Results for "EPHA7"

Variant Events: 20

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

EPHA7

2-1143-003

chr6:
94372612-94372612

T

C

intergenic

De novo

-

-

Yuen2017 G

EPHA7

1-0969-003

chr6:
94275267-94275267

G

C

intergenic

De novo

-

-

Yuen2017 G

EPHA7

1-0263-003

chr6:
94009926-94009926

T

C

intronic

De novo

-

-

Yuen2016 G

EPHA7

SP0046803

chr6:
94120443-94120443

T

C

exonic

De novo

nonsynonymous SNV

NM_001288629
NM_001288630
NM_004440

c.A608G
c.A608G
c.A608G

p.K203R
p.K203R
p.K203R

23.1

Fu2022 E

EPHA7

AU051504

chr6:
94252948-94252948

C

T

intergenic

De novo

-

-

Yuen2017 G

EPHA7

AU3794302

chr6:
94210576-94210576

T

C

intergenic

De novo

-

-

Yuen2017 G

EPHA7

1-0669-003

chr6:
94208784-94208784

A

G

intergenic

De novo

-

-

Yuen2017 G

EPHA7

AU4394302

chr6:
94210472-94210472

C

A

intergenic

De novo

-

-

Yuen2017 G

EPHA7

AU4028302

chr6:
94207183-94207183

C

A

intergenic

De novo

-

-

Yuen2017 G

EPHA7

5-0065-003

chr6:
94279307-94279307

C

T

intergenic

De novo

-

-

Yuen2017 G

EPHA7

PN400495

chr6:
93964371-93964371

A

AT

exonic

Unknown

frameshift insertion

NM_001288629
NM_004440

c.2510dupA
c.2525dupA

p.N837fs
p.N842fs

-

-

Leblond2019 E

EPHA7

AU3517302

chr6:
94110369-94110369

A

G

intronic

De novo

-

-

Yuen2017 G

EPHA7

1-0526-003

chr6:
94380491-94380491

T

C

intergenic

De novo

-

-

Yuen2017 G

EPHA7

2-1356-003

chr6:
94269372-94269372

G

A

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

EPHA7

AU046708

chr6:
94360837-94360837

C

T

intergenic

De novo

-

-

Yuen2017 G

EPHA7

AU2437302

chr6:
94380216-94380216

C

T

intergenic

De novo

-

-

Yuen2017 G

EPHA7

2-1153-003

chr6:
94049757-94049757

A

C

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

EPHA7

AU1933302

chr6:
94035464-94035464

T

G

intronic

De novo

-

-

Yuen2017 G

EPHA7

AU3371305

chr6:
94152049-94152049

A

G

intergenic

De novo

-

-

Yuen2017 G

EPHA7

1-0045-003

chr6:
94053747-94053747

G

C

intronic

De 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 notes	View
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