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Results for "GAPVD1"

Variant Events: 61

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     1-0200-004chr9:
128027729-128027729		TGintronicDe novo--Trost2022 G
GAPVD1     2-1223-003chr9:
128097870-128097870		CAintronicDe novo--Yuen2017 G
GAPVD1     1-0329-003chr9:
128027729-128027729		TGintronicDe novo--Trost2022 G
GAPVD1     2-1625-003chr9:
128027689-128027689		CTintronicDe novo--Trost2022 G
GAPVD1     1-0303-004chr9:
128027750-128027753		TGTACGCGintronicDe novo--Trost2022 G
GAPVD1     1-0526-003chr9:
128027750-128027753		TGTACGCGintronicDe novo--Trost2022 G
GAPVD1     1-0282-003chr9:
128027750-128027753		TGTACGCGintronicDe novo--Trost2022 G
GAPVD1     AU043804chr9:
128128169-128128169		CTdownstreamDe novo--Trost2022 G
Yuen2017 G
GAPVD1     1-0458-004chr9:
128027750-128027753		TGTACGCGintronicDe novo--Trost2022 G
GAPVD1     2-0310-004chr9:
128027733-128027733		ACintronicDe novo--Trost2022 G
GAPVD1     AU2333302chr9:
128184800-128184800		GTintergenicDe novo--Yuen2017 G
GAPVD1     2-1267-003chr9:
128027750-128027753		TGTACGCGintronicDe novo--Trost2022 G
GAPVD1     2-0310-004chr9:
128027729-128027729		TGintronicDe novo--Trost2022 G
GAPVD1     1-0200-004chr9:
128027733-128027733		ACintronicDe novo--Trost2022 G
GAPVD1     3-0708-000chr9:
128027766-128027768		TGACGCintronicDe novo--Trost2022 G
GAPVD1     SP0165642chr9:
128069732-128069732		GAexonicnonsynonymous SNVNM_001282681
NM_015635
NM_001282679
NM_001282680		c.G1157A
c.G1157A
c.G1157A
c.G1157A		p.R386H
p.R386H
p.R386H
p.R386H		25.71.659E-5Zhou2022 GE
GAPVD1     1-0303-004chr9:
128027766-128027768		TGACGCintronicDe novo--Trost2022 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
Zhou2022 GE
GAPVD1     1-0282-003chr9:
128027758-128027758		TCintronicDe novo--Trost2022 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
Zhou2022 GE
GAPVD1     AU3853302chr9:
128160714-128160722		ATAATTAATATAATintergenicDe novo--Yuen2017 G
GAPVD1     1-0191-003chr9:
128027766-128027768		TGACGCintronicDe novo--Trost2022 G
GAPVD1     14592.p1chr9:
128118025-128118025		CAexonicDe novo, Mosaic Pat.nonsynonymous 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
Zhou2022 GE
GAPVD1     1-0303-004chr9:
128027758-128027758		TCintronicDe novo--Trost2022 G
GAPVD1     3-0305-000chr9:
128027758-128027758		TCintronicDe novo--Trost2022 G
GAPVD1     mAGRE5325chr9:
128097519-128097519		CTexonicPaternalstopgainNM_015635c.C2497Tp.Q833X36.0-Cirnigliaro2023 G
GAPVD1     3-0708-000chr9:
128027750-128027753		TGTACGCGintronicDe novo--Trost2022 G
GAPVD1     mAGRE5324chr9:
128097519-128097519		CTexonicPaternalstopgainNM_015635c.C2497Tp.Q833X36.0-Cirnigliaro2023 G
GAPVD1     1-0006-004chr9:
128027771-128027771		CGintronicDe novo--Trost2022 G
Yuen2017 G
GAPVD1     1-0191-003chr9:
128027758-128027758		TCintronicDe novo--Trost2022 G
GAPVD1     3-0708-000chr9:
128027771-128027771		CGintronicDe novo--Trost2022 G
GAPVD1     1-0303-004chr9:
128027771-128027771		CGintronicDe novo--Trost2022 G
GAPVD1     1-0191-003chr9:
128027771-128027771		CGintronicDe novo--Trost2022 G
GAPVD1     AU2525302chr9:
128148674-128148674		CAintergenicDe novo--Yuen2017 G
GAPVD1     2-1267-003chr9:
128027771-128027771		CGintronicDe novo--Trost2022 G
GAPVD1     1-0458-004chr9:
128027766-128027768		TGACGCintronicDe novo--Trost2022 G
GAPVD1     1-0282-003chr9:
128027766-128027768		TGACGCintronicDe novo--Trost2022 G
GAPVD1     3-0305-000chr9:
128027766-128027768		TGACGCintronicDe novo--Trost2022 G
GAPVD1     1-0526-003chr9:
128027766-128027768		TGACGCintronicDe novo--Trost2022 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
Fu2022 E
Trost2022 G
Zhou2022 GE
GAPVD1     1-0049-004chr9:
128065372-128065372		CTintronicDe novo--Trost2022 G
GAPVD1     MSSNG00336-004chr9:
128066521-128066521		GAintronicDe novo--Trost2022 G
GAPVD1     1-0049-004chr9:
128065364-128065364		CTintronicDe novo--Trost2022 G
GAPVD1     1-0049-004chr9:
128065367-128065367		ACintronicDe novo--Trost2022 G
GAPVD1     1-0018-003chr9:
128040422-128040430		TGATATTTGTintronicDe novo--Trost2022 G
GAPVD1     1-0018-003chr9:
128040433-128040433		ACintronicDe novo--Trost2022 G
GAPVD1     3-0305-000chr9:
128027771-128027771		CGintronicDe novo--Trost2022 G
GAPVD1     4-0062-003chr9:
128027837-128027839		GGTCCCintronicDe novo--Trost2022 G
GAPVD1     2-0158-003chr9:
128085465-128085465		ACintronicDe novo--Trost2022 G
Yuen2017 G
GAPVD1     1-0756-005chr9:
128087130-128087131		CTCintronicDe novo--Trost2022 G
GAPVD1     5-5170-003chr9:
128066935-128066935		TGintronicDe novo--Trost2022 G
GAPVD1     MT_88.3chr9:
128069914-128069914		TCintronicDe novo--Trost2022 G
GAPVD1     2-0304-004chr9:
128061163-128061163		TCintronicDe novo--Trost2022 G
Yuen2017 G
Zhou2022 GE
GAPVD1     SP0102019chr9:
128092498-128092498		GTsplicingDe novosplicing22.9-Fu2022 E
Trost2022 G
Zhou2022 GE
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-Fu2022 E
Lim2017 E
Trost2022 G
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     AU060703chr9:
128105935-128105935		AGintronicDe novo--Trost2022 G
Yuen2017 G
GAPVD1     37419chr9:
128118025-128118025		CAexonicDe 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-Fu2022 E
Trost2022 G
GAPVD1     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-Fu2022 E
Trost2022 G
GAPVD1     SMHC01571s000chr9:
128122846-128122846		GCexonicDe novononsynonymous SNVNM_001282681
NM_015635
NM_001282679
NM_001282680		c.G4021C
c.G4165C
c.G4138C
c.G4084C		p.E1341Q
p.E1389Q
p.E1380Q
p.E1362Q		26.6-Yuan2023 E
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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