Variant Results

or

or

Results for "ADGRB2"

Variant Events: 13

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

ADGRB2

PN400495

chr1:
32201439-32201439

C

T

exonic

Unknown

nonsynonymous SNV

NM_001294335
NM_001294336

c.G3256A
c.G3256A

p.V1086I
p.V1086I

20.5

Leblond2019 E

ADGRB2

AU1955302

chr1:
32224344-32224344

T

A

intronic

De novo

-

-

Yuen2017 G

ADGRB2

2-1430-003

chr1:
32194693-32194693

G

A

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

ADGRB2

12646.p1

chr1:
32198069-32198069

T

TG

intronic

De novo

-

Satterstrom2020 E

ADGRB2

1-0559-005

chr1:
32227223-32227223

G

A

intronic

De novo

-

-

Yuen2017 G

ADGRB2

12529.p1

chr1:
32209765-32209765

A

G

intronic

Mosaic Mat.

-

Dou2017 E

ADGRB2

13043.p1

chr1:
32221861-32221861

A

AGTT

exonic

De novo

nonframeshift insertion

NM_001294335
NM_001294336

c.576_577insAAC
c.576_577insAAC

p.S193delinsNS
p.S193delinsNS

-

-

Satterstrom2020 E

ADGRB2

PN400488

chr1:
32201439-32201439

C

T

exonic

Unknown

nonsynonymous SNV

NM_001294335
NM_001294336

c.G3256A
c.G3256A

p.V1086I
p.V1086I

20.5

Leblond2019 E

ADGRB2

13390.p1

chr1:
32207262-32207262

G

A

exonic

De novo

synonymous SNV

NM_001294335
NM_001294336

c.C1650T
c.C1650T

p.G550G
p.G550G

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

ADGRB2

1-0590-003

chr1:
32252623-32252623

T

C

intergenic

De novo

-

-

Yuen2017 G

ADGRB2

74-0707

chr1:
32196666-32196666

T

A

exonic

Inherited

nonsynonymous SNV

NM_001294336
NM_001294335

c.A4016T
c.A4115T

p.D1339V
p.D1372V

12.11

-

Patowary2019 E

ADGRB2

SP0019703

chr1:
32198613-32198613

C

A

exonic

Mosaic

nonsynonymous SNV

NM_001294336
NM_001294335

c.G3485T
c.G3584T

p.G1162V
p.G1195V

27.5

-

Feliciano2019 E

ADGRB2

PN400171

chr1:
32201439-32201439

C

T

exonic

Unknown

nonsynonymous SNV

NM_001294335
NM_001294336

c.G3256A
c.G3256A

p.V1086I
p.V1086I

20.5

Leblond2019 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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