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Results for "RALGAPA1"

Variant Events: 4

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
RALGAPA1     NDAR_INVYC885VDZ_wes1chr14:
36133921-36133921
TGexonicDe novononsynonymous SNVNM_014990
NM_194301
NM_001283043
NM_001283044
c.A3737C
c.A3737C
c.A3776C
c.A3878C
p.N1246T
p.N1246T
p.N1259T
p.N1293T
25.5-DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
RALGAPA1     1-0292-005chr14:
36280027-36280027
TGintergenicDe novo--Yuen2017 G
RALGAPA1     AU3984301chr14:
36285869-36285869
CTintergenicDe novo--Yuen2017 G
RALGAPA1     14617.p1chr14:
36096327-36096330
TAAGTexonicDe novononframeshift deletionNM_014990
NM_194301
NM_001283043
NM_001283044
c.5305_5307del
c.5305_5307del
c.5344_5346del
c.5446_5448del
p.1769_1769del
p.1769_1769del
p.1782_1782del
p.1816_1816del
--Iossifov2014 E
Kosmicki2017 E
O’Roak2014 T
Satterstrom2020 E
Wilfert2021 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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