Variant Results

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or

Results for "GFPT2"

Variant Events: 19

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

GFPT2

06HI4858A

chr5:
179745870-179745870

C

T

exonic

De novo

nonsynonymous SNV

NM_005110

c.G881A

p.R294Q

33.0

Satterstrom2020 E

GFPT2

13896.p1

chr5:
179755381-179755381

C

T

intronic

Mosaic Pat.

-

Dou2017 E

GFPT2

2-0057-003

chr5:
179857336-179857336

C

G

intergenic

De novo

-

-

Yuen2017 G

GFPT2

5-0077-004

chr5:
179910445-179910445

A

G

intergenic

De novo

-

-

Yuen2017 G

GFPT2

7-0135-003

chr5:
179917748-179917748

G

A

intergenic

De novo

-

-

Yuen2017 G

GFPT2

AU3911302

chr5:
179850486-179850486

G

C

intergenic

De novo

-

-

Yuen2017 G

GFPT2

1-0568-003

chr5:
179903439-179903439

C

CTGTTTAA

intergenic

De novo

-

-

Yuen2017 G

GFPT2

1-0252-003

chr5:
179729280-179729280

C

CCGTATCAA

intronic

De novo

-

-

Yuen2017 G

GFPT2

1-0373-003

chr5:
179893599-179893599

G

T

intergenic

De novo

-

-

Yuen2017 G

GFPT2

5-0148-003

chr5:
179727858-179727858

G

C

UTR3

De novo

-

-

Yuen2017 G

GFPT2

SP0053080

chr5:
179780314-179780319

CGTGGG

C

UTR5

De novo

-

-

Fu2022 E

GFPT2

1-0862-003

chr5:
179837448-179837448

A

T

intergenic

De novo

-

-

Yuen2017 G

GFPT2

2-1153-003

chr5:
179787755-179787755

G

A

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

GFPT2

AU3343301

chr5:
179740146-179740146

C

T

intronic

De novo

-

-

Yuen2017 G

GFPT2

EGAN00001101277

chr5:
179763467-179763467

T

G

intronic

De novo

-

Satterstrom2020 E

GFPT2

NDAR_INVHV043VE2_wes1

chr5:
179763552-179763552

G

A

exonic

De novo

synonymous SNV

NM_005110

c.C141T

p.H47H

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E

GFPT2

AU005213

chr5:
179894232-179894232

C

T

intergenic

De novo

-

-

Yuen2017 G

GFPT2

1-0092-004

chr5:
179761658-179761658

T

G

intronic

De novo

-

-

Yuen2017 G

GFPT2

1-0305-004

chr5:
179894914-179894914

G

A

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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