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Results for "RABGGTA"

Variant Events: 9

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
RABGGTA     12669.p1chr14:
24737571-24737571
CTintronicDe novo11.17-Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
RABGGTA     PN400115chr14:
24737126-24737126
CGexonicUnknownnonsynonymous SNVNM_004581
NM_182836
c.G1186C
c.G1186C
p.D396H
p.D396H
29.58.319E-6Leblond2019 E
RABGGTA     AU3727302chr14:
24737871-24737871
TCintronicDe novo--Yuen2017 G
RABGGTA     1-0303-004chr14:
24742643-24742643
CTintergenicDe novo--Yuen2017 G
RABGGTA     AU3913303chr14:
24743391-24743391
CTintergenicDe novo--Yuen2017 G
RABGGTA     PN400231chr14:
24736942-24736942
CTexonicUnknownnonsynonymous SNVNM_004581
NM_182836
c.G1277A
c.G1277A
p.R426H
p.R426H
32.07.525E-5Leblond2019 E
RABGGTA     PN400215chr14:
24737126-24737126
CGexonicUnknownnonsynonymous SNVNM_004581
NM_182836
c.G1186C
c.G1186C
p.D396H
p.D396H
29.58.319E-6Leblond2019 E
RABGGTA     11716.p1chr14:
24738874-24738874
CAexonicDe novononsynonymous SNVNM_004581
NM_182836
c.G454T
c.G454T
p.V152L
p.V152L
27.83.0E-4Ji2016 E
Krumm2015 E
RABGGTA     PN400219chr14:
24737126-24737126
CGexonicUnknownnonsynonymous SNVNM_004581
NM_182836
c.G1186C
c.G1186C
p.D396H
p.D396H
29.58.319E-6Leblond2019 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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