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Results for "GAPVD1"

Variant Events: 16

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     AU2525302chr9:
128148674-128148674
CAintergenicDe novo--Yuen2017 G
GAPVD1     AU060703chr9:
128105935-128105935
AGintronicDe novo--Yuen2017 G
GAPVD1     SP0011734chr9:
128113084-128113084
CTexonicDe novononsynonymous SNVNM_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
GAPVD1     2-1223-003chr9:
128097870-128097870
CAintronicDe novo--Yuen2017 G
GAPVD1     AU2109302chr9:
128148331-128148331
TCintergenicDe novo--Yuen2017 G
GAPVD1     SSC09404chr9:
128117108-128117108
GCexonicDe novononsynonymous SNVNM_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-Lim2017 E
GAPVD1     Lim2017:36122chr9:
128092441-128092441
CGexonicDe novononsynonymous SNVNM_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     2-0158-003chr9:
128085465-128085465
ACintronicDe novo--Yuen2017 G
GAPVD1     AU043804chr9:
128128169-128128169
CTdownstreamDe novo--Yuen2017 G
GAPVD1     AU2333302chr9:
128184800-128184800
GTintergenicDe novo--Yuen2017 G
GAPVD1     14368.p1chr9:
128092441-128092441
CGexonicDe novononsynonymous SNVNM_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.p1chr9:
128117108-128117108
GCexonicDe novononsynonymous SNVNM_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     2-0304-004chr9:
128061163-128061163
TCintronicDe novo--Yuen2017 G
GAPVD1     AU3853302chr9:
128160714-128160722
ATAATTAATATAATintergenicDe novo--Yuen2017 G
GAPVD1     14592.p1chr9:
128118025-128118025
CAexonicMosaic Pat., De novononsynonymous SNVNM_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     1-0006-004chr9:
128027771-128027771
CGintronicDe novo--Yuen2017 G
Source Variant Information

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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 notesView
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