Variant Results

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Results for "ADGRA2"

Variant Events: 11

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

ADGRA2

Lee2014:2

chr8:
37688966-37688966

G

A

exonic

Paternal

nonsynonymous SNV

NM_032777

c.G958A

p.V320M

13.47

Lee2014 E

ADGRA2

2-1368-003

chr8:
37671387-37671387

G

T

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

ADGRA2

Lee2014:2

chr8:
37699298-37699298

G

T

exonic

Maternal

stopgain

NM_032777

c.G3442T

p.E1148X

37.0

-

Lee2014 E

ADGRA2

iHART2795

chr8:
37688971-37688971

G

A

exonic

Paternal

stopgain

NM_032777

c.G963A

p.W321X

35.0

-

Ruzzo2019 G

ADGRA2

iHART3095

chr8:
37688362-37688362

C

T

exonic

Paternal

stopgain

NM_032777

c.C853T

p.R285X

33.0

Ruzzo2019 G

ADGRA2

A9

chr8:
37673873-37673873

G

A

intronic

De novo

-

-

Wu2018 G

ADGRA2

iHART3094

chr8:
37688362-37688362

C

T

exonic

Paternal

stopgain

NM_032777

c.C853T

p.R285X

33.0

Ruzzo2019 G

ADGRA2

Lee2014:1

chr8:
37699298-37699298

G

T

exonic

Maternal

stopgain

NM_032777

c.G3442T

p.E1148X

37.0

-

Lee2014 E

ADGRA2

SP0127239

chr8:
37692931-37692931

A

T

intronic

De novo

-

-

Fu2022 E

ADGRA2

Lee2014:1

chr8:
37688966-37688966

G

A

exonic

Paternal

nonsynonymous SNV

NM_032777

c.G958A

p.V320M

13.47

Lee2014 E

ADGRA2

SP0119120

chr8:
37692830-37692830

G

C

exonic

De novo

nonsynonymous SNV

NM_032777

c.G1747C

p.E583Q

11.69

-

Fu2022 E

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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