Variant Results

or

Results for "GNAS"

Variant Events: 15

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

GNAS

1-0473-003

chr20:
57513218-57513222

TAGAA

T

intergenic

De novo

-

Yuen2017 G

GNAS

SP0033956

chr20:
57430322-57430322

C

G

exonic

De novo

nonsynonymous SNV

NM_001077490
NM_001309883
NM_080425

c.C1815G
c.C1815G
c.C2002G

p.S605R
p.S605R
p.L668V

6.679

-

Fu2022 E

GNAS

12857.p1

chr20:
57430064-57430064

G

A

exonic

De novo

nonsynonymous SNV

NM_080425

c.G1744A

p.D582N

16.13

9.138E-6

Satterstrom2020 E

GNAS

SP0016246

chr20:
57467266-57467266

T

A

intronic

De novo

-

Fu2022 E

GNAS

SP0086383

chr20:
57428271-57428271

G

A

UTR5

De novo

-

Fu2022 E

GNAS

Li2017:23700

chr20:
57428664-57428664

G

A

exonic

Unknown

stopgain

NM_080425

c.G344A

p.W115X

26.8

-

Li2017 T

GNAS

1-0073-003

chr20:
57529432-57529432

G

A

intergenic

De novo

-

Yuen2017 G

GNAS

11132_p1

chr20:
57484241-57484241

C

G

exonic

De novo

nonsynonymous SNV

NM_001077489
NM_080426
NM_000516
NM_001077488
NM_001309840
NM_001309861
NM_080425

c.C510G
c.C513G
c.C555G
c.C558G
c.C378G
c.C378G
c.C2484G

p.I170M
p.I171M
p.I185M
p.I186M
p.I126M
p.I126M
p.I828M

17.71

-

Fu2022 E

GNAS

AU4211304

chr20:
57464338-57464338

C

T

UTR5

De novo

-

Yuen2017 G

GNAS

SSC11872

chr20:
57478739-57478739

G

A

exonic

De novo

nonsynonymous SNV

NM_001077489
NM_080426
NM_000516
NM_001077488
NM_001309840
NM_001309861
NM_080425

c.G280A
c.G283A
c.G325A
c.G328A
c.G148A
c.G148A
c.G2254A

p.A94T
p.A95T
p.A109T
p.A110T
p.A50T
p.A50T
p.A752T

32.0

-

Fu2022 E
Lim2017 E

GNAS

1-0585-003

chr20:
57471690-57471690

G

A

intronic

De novo

-

Yuen2017 G

GNAS

AU4013303

chr20:
57507438-57507438

C

T

intergenic

De novo

-

Yuen2017 G

GNAS

14373.p1

chr20:
57478739-57478739

G

A

exonic

De novo

nonsynonymous SNV

NM_001077489
NM_080426
NM_000516
NM_001077488
NM_001309840
NM_001309861
NM_080425

c.G280A
c.G283A
c.G325A
c.G328A
c.G148A
c.G148A
c.G2254A

p.A94T
p.A95T
p.A109T
p.A110T
p.A50T
p.A50T
p.A752T

32.0

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E

GNAS

12359.p1

chr20:
57480424-57480424

G

A

intronic

Mosaic

-

Dou2017 E

GNAS

11132.p1

chr20:
57484241-57484241

C

G

exonic

De novo

nonsynonymous SNV

NM_001077489
NM_080426
NM_000516
NM_001077488
NM_001309840
NM_001309861
NM_080425

c.C510G
c.C513G
c.C555G
c.C558G
c.C378G
c.C378G
c.C2484G

p.I170M
p.I171M
p.I185M
p.I186M
p.I126M
p.I126M
p.I828M

17.71

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Sanders2012 E
Satterstrom2020 E
Wilfert2021 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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