Variant Results

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Results for "GPAT3"

Variant Events: 18

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

GPAT3

1-0214-003

chr4:
84739158-84739158

G

T

intergenic

De novo

-

-

Yuen2017 G

GPAT3

2-0045-003

chr4:
84597956-84597956

A

C

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

GPAT3

12175.p1

chr4:
84552272-84552272

A

C

intergenic

De novo

-

-

Turner2016 G

GPAT3

AU030703

chr4:
84638252-84638252

C

T

intergenic

De novo

-

-

Yuen2017 G

GPAT3

AU2569301

chr4:
84668554-84668554

T

C

intergenic

De novo

-

-

Yuen2017 G

GPAT3

AU3888302

chr4:
84496675-84496675

C

T

intronic

De novo

-

-

Yuen2017 G

GPAT3

2-1508-003

chr4:
84500425-84500425

C

CT

intronic

De novo

-

-

Yuen2017 G

GPAT3

AU3905301

chr4:
84843318-84843318

T

C

intergenic

De novo

-

-

Yuen2017 G

GPAT3

1-0625-003

chr4:
84533587-84533587

G

A

intergenic

De novo

-

-

Yuen2017 G

GPAT3

AU3724302

chr4:
84870989-84870989

G

C

intergenic

De novo

-

-

Yuen2017 G

GPAT3

iHART2045

chr4:
84502891-84502892

AG

A

exonic

Maternal

frameshift deletion

NM_032717
NM_001256421
NM_001256422

c.386delG
c.386delG
c.386delG

p.R129fs
p.R129fs
p.R129fs

-

-

Ruzzo2019 G

GPAT3

2-0144-004

chr4:
84559532-84559534

CAG

C

intergenic

De novo

-

-

Yuen2017 G

GPAT3

2-0012-004

chr4:
84613566-84613566

C

A

intergenic

De novo

-

-

Yuen2017 G

GPAT3

iHART2043

chr4:
84502891-84502892

AG

A

exonic

Maternal

frameshift deletion

NM_032717
NM_001256421
NM_001256422

c.386delG
c.386delG
c.386delG

p.R129fs
p.R129fs
p.R129fs

-

-

Ruzzo2019 G

GPAT3

AU4264302

chr4:
84841747-84841747

T

G

intergenic

De novo

-

-

Yuen2017 G

GPAT3

2-0018-004

chr4:
84525052-84525052

A

G

intronic

De novo

-

-

Yuen2017 G

GPAT3

1-0413-003

chr4:
84692565-84692565

G

A

intergenic

De novo

-

-

Yuen2017 G

GPAT3

1-0303-003

chr4:
84733406-84733406

C

G

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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