Variant Results

or

Results for "GAPVD1"

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

GAPVD1

AU2525302

chr9:
128148674-128148674

C

A

intergenic

De novo

-

Yuen2017 G

GAPVD1

AU060703

chr9:
128105935-128105935

A

G

intronic

De novo

-

Yuen2017 G

GAPVD1

SP0011734

chr9:
128113084-128113084

C

T

exonic

De novo

nonsynonymous SNV

NM_001282681
NM_015635
NM_001282679
NM_001282680

c.C3439T
c.C3583T
c.C3556T
c.C3502T

p.R1147C
p.R1195C
p.R1186C
p.R1168C

32.0

-

Feliciano2019 E
Fu2022 E

GAPVD1

2-1223-003

chr9:
128097870-128097870

C

A

intronic

De novo

-

Yuen2017 G

GAPVD1

AU2109302

chr9:
128148331-128148331

T

C

intergenic

De novo

-

Yuen2017 G

GAPVD1

SSC09404

chr9:
128117108-128117108

G

C

exonic

De novo

nonsynonymous SNV

NM_001282681
NM_015635
NM_001282679
NM_001282680

c.G3682C
c.G3826C
c.G3799C
c.G3745C

p.E1228Q
p.E1276Q
p.E1267Q
p.E1249Q

14.83

-

Fu2022 E
Lim2017 E

GAPVD1

Lim2017:36122

chr9:
128092441-128092441

C

G

exonic

De novo

nonsynonymous SNV

NM_001282681
NM_015635
NM_001282679
NM_001282680

c.C2054G
c.C2117G
c.C2117G
c.C2117G

p.T685S
p.T706S
p.T706S
p.T706S

21.1

-

Lim2017 E

GAPVD1

2-0158-003

chr9:
128085465-128085465

A

C

intronic

De novo

-

Yuen2017 G

GAPVD1

37419

chr9:
128118025-128118025

C

A

exonic

De novo

nonsynonymous SNV

NM_001282681
NM_015635
NM_001282679
NM_001282680

c.C3797A
c.C3941A
c.C3914A
c.C3860A

p.A1266E
p.A1314E
p.A1305E
p.A1287E

34.0

-

Fu2022 E

GAPVD1

AU043804

chr9:
128128169-128128169

C

T

downstream

De novo

-

Yuen2017 G

GAPVD1

AU2333302

chr9:
128184800-128184800

G

T

intergenic

De novo

-

Yuen2017 G

GAPVD1

14368.p1

chr9:
128092441-128092441

C

G

exonic

De novo

nonsynonymous SNV

NM_001282681
NM_015635
NM_001282679
NM_001282680

c.C2054G
c.C2117G
c.C2117G
c.C2117G

p.T685S
p.T706S
p.T706S
p.T706S

21.1

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G

GAPVD1

13732.p1

chr9:
128117108-128117108

G

C

exonic

De novo

nonsynonymous SNV

NM_001282681
NM_015635
NM_001282679
NM_001282680

c.G3682C
c.G3826C
c.G3799C
c.G3745C

p.E1228Q
p.E1276Q
p.E1267Q
p.E1249Q

14.83

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E

GAPVD1

2-0304-004

chr9:
128061163-128061163

T

C

intronic

De novo

-

Yuen2017 G

GAPVD1

AU3853302

chr9:
128160714-128160722

ATAATTAAT

ATAAT

intergenic

De novo

-

Yuen2017 G

GAPVD1

SP0102019

chr9:
128092498-128092498

G

T

splicing

De novo

splicing

22.9

-

Fu2022 E

GAPVD1

14592.p1

chr9:
128118025-128118025

C

A

exonic

De novo, Mosaic Pat.

nonsynonymous SNV

NM_001282681
NM_015635
NM_001282679
NM_001282680

c.C3797A
c.C3941A
c.C3914A
c.C3860A

p.A1266E
p.A1314E
p.A1305E
p.A1287E

34.0

-

Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E

GAPVD1

36122

chr9:
128092441-128092441

C

G

exonic

De novo

nonsynonymous SNV

NM_001282681
NM_015635
NM_001282679
NM_001282680

c.C2054G
c.C2117G
c.C2117G
c.C2117G

p.T685S
p.T706S
p.T706S
p.T706S

21.1

-

Fu2022 E

GAPVD1

1-0006-004

chr9:
128027771-128027771

C

G

intronic

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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