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Results for "RAB3GAP2"

Variant Events: 27

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
RAB3GAP2     11252.p1chr1:
220626748-220626748
CTintergenicDe novo--Turner2016 G
RAB3GAP2     AU4215302chr1:
220504468-220504468
GAintergenicDe novo--Yuen2017 G
RAB3GAP2     AU4452302chr1:
220376475-220376475
ATintronicDe novo--Yuen2017 G
RAB3GAP2     2-0270-004chr1:
220588257-220588257
GAintergenicDe novo--Yuen2017 G
RAB3GAP2     AU4308302chr1:
220469114-220469114
AGintergenicDe novo--Yuen2017 G
RAB3GAP2     JASD_Fam0018chr1:
220363844-220363844
ACexonicDe novostopgainNM_012414c.T1506Gp.Y502X38.0-Takata2018 E
RAB3GAP2     Li2017:23668chr1:
220387280-220387280
CAexonicUnknownnonsynonymous SNVNM_012414c.G222Tp.W74C22.8-Li2017 T
RAB3GAP2     2-0300-004chr1:
220322197-220322197
AAAGTTUTR3De novo--Yuen2017 G
RAB3GAP2     08C73727chr1:
220355649-220355649
CTexonicDe novononsynonymous SNVNM_012414c.G2260Ap.D754N16.16-Satterstrom2020 E
RAB3GAP2     AU2863303chr1:
220416398-220416398
ATintronicDe novo--Yuen2017 G
RAB3GAP2     AU4191302chr1:
220409769-220409769
CTintronicDe novo--Yuen2017 G
RAB3GAP2     2-0127-004chr1:
220620197-220620197
AGintergenicDe novo--Yuen2017 G
RAB3GAP2     2-1430-003chr1:
220513739-220513739
TCintergenicDe novo--Yuen2017 G
RAB3GAP2     5-0125-003chr1:
220473939-220473939
TCintergenicDe novo--Yuen2017 G
RAB3GAP2     1-0067-004chr1:
220698309-220698309
TCintergenicDe novo--Yuen2017 G
RAB3GAP2     2-1148-004chr1:
220534417-220534417
CTintergenicDe novo--Yuen2017 G
RAB3GAP2     1-0460-003chr1:
220506645-220506645
TCintergenicDe novo--Yuen2017 G
RAB3GAP2     AU073006chr1:
220558528-220558528
AGintergenicDe novo--Yuen2017 G
RAB3GAP2     2-1325-003chr1:
220427076-220427076
GAintronicDe novo--Yuen2017 G
RAB3GAP2     Li2017:15084chr1:
220379275-220379275
CTexonicUnknownnonsynonymous SNVNM_012414c.G686Ap.R229H35.02.565E-5Li2017 T
RAB3GAP2     1-0052-003chr1:
220333529-220333529
CTintronicDe novo--Yuen2017 G
RAB3GAP2     1-0336-003chr1:
220361159-220361159
GCintronicDe novo--Yuen2017 G
RAB3GAP2     5-0003-004chr1:
220429638-220429638
GAintronicDe novo--Yuen2017 G
RAB3GAP2     Cukier2014:7531chr1:
220379266-220379266
CTexonicUnknownnonsynonymous SNVNM_012414c.G695Ap.R232Q35.02.601E-5Cukier2014 E
RAB3GAP2     1-0150-004chr1:
220460068-220460068
TCintergenicDe novo--Yuen2017 G
RAB3GAP2     AU050910chr1:
220451386-220451386
GAintergenicDe novo--Yuen2017 G
RAB3GAP2     5-0054-003chr1:
220483867-220483867
GTintergenicDe 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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