Variant Results

or

or

Results for "GNAT3"

Variant Events: 14

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

GNAT3

iHART1547

chr7:
80117849-80117849

A

C

splicing

Maternal

splicing

24.3

Ruzzo2019 G

GNAT3

1-0699-003

chr7:
80122684-80122684

C

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

GNAT3

MSSNG00024-003A

chr7:
80095241-80095241

T

C

intronic

De novo

-

-

Trost2022 G

GNAT3

11456.p1

chr7:
80091017-80091017

A

T

intronic

De novo

-

-

Turner2016 G

GNAT3

13393.p1

chr7:
80092512-80092512

G

A

intronic

De novo

-

-

Turner2016 G

GNAT3

1-0998-003

chr7:
80179059-80179059

C

T

intergenic

De novo

-

-

Yuen2017 G

GNAT3

mAGRE1547

chr7:
80117849-80117849

A

C

splicing

Maternal

splicing

24.3

Cirnigliaro2023 G

GNAT3

11456.p1

chr7:
80221996-80221996

G

A

intergenic

De novo

-

-

Turner2016 G

GNAT3

2-1152-003

chr7:
80090893-80090893

T

C

intronic

De novo

-

-

Yuen2017 G

GNAT3

AU4067301

chr7:
80090813-80090813

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

GNAT3

1-0107-003

chr7:
80126279-80126279

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2016 G
Yuen2017 G

GNAT3

1-0640-003

chr7:
80128507-80128507

A

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

GNAT3

1-0757-003

chr7:
80203314-80203314

A

C

intergenic

De novo

-

-

Yuen2017 G

GNAT3

AU4315302

chr7:
80148512-80148512

C

T

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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