Variant Results

or

Results for "GNA12"

Variant Events: 37

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

GNA12

1-0009-004

chr7:
2933894-2933894

G

A

intergenic

De novo

-

Yuen2017 G

GNA12

AU1995302

chr7:
2833924-2833924

G

C

intronic

De novo

-

Yuen2017 G

GNA12

G01-GEA-312-HI

chr7:
2883670-2883670

G

A

exonic

De novo

synonymous SNV

NM_001293092
NM_007353

c.C126T
c.C126T

p.D42D
p.D42D

-

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

GNA12

2-0003-004

chr7:
2828851-2828851

G

C

intronic

De novo

-

Trost2022 G

GNA12

2-0003-004

chr7:
2828870-2828870

C

A

intronic

De novo

-

Trost2022 G

GNA12

REACH000443

chr7:
2822163-2822163

C

T

intronic

De novo

-

Trost2022 G

GNA12

4-0004-003

chr7:
2825482-2825482

A

C

intronic

De novo

-

Trost2022 G

GNA12

1-0485-003

chr7:
2864144-2864144

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

GNA12

AU1995302

chr7:
2823505-2823505

G

C

intronic

De novo

-

Yuen2017 G

GNA12

7-0226-003

chr7:
2809044-2809044

A

T

intronic

De novo

-

Trost2022 G

GNA12

1-0485-003

chr7:
2856437-2856437

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

GNA12

AU1995302

chr7:
2825983-2825983

A

T

intronic

De novo

-

Yuen2017 G

GNA12

MSSNG00016-003

chr7:
2812506-2812506

A

T

intronic

De novo

-

Trost2022 G

GNA12

1-0485-003

chr7:
2851535-2851535

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

GNA12

AU1995302

chr7:
2826835-2826835

G

A

intronic

De novo

-

Yuen2017 G

GNA12

MSSNG00016-003

chr7:
2798090-2798090

G

A

intronic

De novo

-

Trost2022 G
Trost2022 G

GNA12

AU1995302

chr7:
2830641-2830641

G

C

intronic

De novo

-

Yuen2017 G

GNA12

1-1122-003

chr7:
2803311-2803311

G

A

intronic

De novo

-

Trost2022 G
Trost2022 G

GNA12

1-0464-003

chr7:
2792490-2792490

T

C

intronic

De novo

-

Trost2022 G
Trost2022 G
Yuen2016 G
Yuen2017 G

GNA12

AU2504301

chr7:
2851373-2851373

G

C

intronic

De novo

-

Trost2022 G

GNA12

3-0471-000

chr7:
2846109-2846109

A

G

intronic

De novo

-

Trost2022 G

GNA12

1-0751-003

chr7:
2890222-2890241

AACCACCACCACCACCACCA

AACCACCACCACCACCA

intergenic

De novo

-

Yuen2017 G

GNA12

7-0198-003

chr7:
2848994-2848994

T

C

intronic

De novo

-

Trost2022 G

GNA12

MSSNG00392-003

chr7:
2835070-2835070

G

T

intronic

De novo

-

Trost2022 G

GNA12

AU2571301

chr7:
2840900-2840902

GAA

G

intronic

De novo

-

Trost2022 G

GNA12

111310

chr7:
2802363-2802363

G

A

exonic

nonsynonymous SNV

NM_001282440

c.C160T

p.H54Y

3.136

-

Woodbury-Smith2022 E

GNA12

SP0096976

chr7:
2854494-2854494

C

T

intronic

De novo

-

Fu2022 E
Trost2022 G

GNA12

1-0294-003

chr7:
2788552-2788552

C

G

intronic

De novo

-

Yuen2017 G

GNA12

2-1371-003

chr7:
2893184-2893184

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

GNA12

2-1397-003

chr7:
2775658-2775658

T

C

intronic

De novo

-

Trost2022 G
Trost2022 G
Yuen2017 G

GNA12

1-0551-004

chr7:
2875961-2875961

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

GNA12

1-0010-005

chr7:
2862994-2862994

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

GNA12

5-0042-003

chr7:
2786648-2786648

G

A

intronic

De novo

-

Trost2022 G
Trost2022 G
Yuen2017 G

GNA12

7-0058-003

chr7:
2776887-2776891

GCTAT

G

intronic

De novo

-

Yuen2017 G

GNA12

2-1356-003

chr7:
2768211-2768211

T

C

UTR3

De novo

-

Trost2022 G
Trost2022 G
Yuen2016 G
Yuen2017 G

GNA12

5-5012-003

chr7:
2775565-2775565

C

T

intronic

De novo

-

Trost2022 G
Trost2022 G

GNA12

2-1093-009

chr7:
2932229-2932229

T

C

intergenic

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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