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Results for "SNAPC3"

Variant Events: 11

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
SNAPC3     80001103390chr9:
15422919-15422919
GCexonicDe novosynonymous SNVNM_001039697c.G42Cp.V14V--Fu2022 E
Satterstrom2020 E
SNAPC3     2-1230-003chr9:
15429169-15429169
ACintronicDe novo--Yuen2016 G
Yuen2017 G
SNAPC3     7-0253-005chr9:
15425269-15425269
TCintronicDe novo--Yuen2017 G
SNAPC3     iHART2416chr9:
15423985-15423985
GAsplicingMaternalsplicing21.9-Ruzzo2019 G
SNAPC3     iHART2415chr9:
15423985-15423985
GAsplicingMaternalsplicing21.9-Ruzzo2019 G
SNAPC3     12591.p1chr9:
15459725-15459725
CTexonicDe novononsynonymous SNVNM_001039697c.C1097Tp.T366M28.31.65E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
SNAPC3     iHART2417chr9:
15423985-15423985
GAsplicingMaternalsplicing21.9-Ruzzo2019 G
SNAPC3     2-1730-003chr9:
15427567-15427567
CAintronicDe novo--Yuen2017 G
SNAPC3     AU4007301chr9:
15460270-15460270
GCUTR3De novo--Yuen2017 G
SNAPC3     SSC05533chr9:
15459725-15459725
CTexonicDe novononsynonymous SNVNM_001039697c.C1097Tp.T366M28.31.65E-5Fu2022 E
Lim2017 E
SNAPC3     2-0285-003chr9:
15454740-15454740
GCintronicDe 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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