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Results for "VPS13A"

Variant Events: 14

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
VPS13A     AU3807302chr9:
79899330-79899330
AGintronicDe novo--Yuen2017 G
VPS13A     2-0240-004chr9:
79818038-79818045
TAGAATGCTintronicDe novo--Yuen2017 G
VPS13A     iHART3242chr9:
79820892-79820892
AGsplicingMaternalsplicing19.98-Ruzzo2019 G
VPS13A     iHART3240chr9:
79820892-79820892
AGsplicingMaternalsplicing19.98-Ruzzo2019 G
VPS13A     7-0103-003chr9:
79831270-79831270
TCintronicDe novo--Yuen2017 G
VPS13A     111316chr9:
79852989-79852989
CAexonicnonsynonymous SNVNM_001018037
NM_001018038
NM_015186
NM_033305
c.C1667A
c.C1667A
c.C1667A
c.C1667A
p.S556Y
p.S556Y
p.S556Y
p.S556Y
23.3-Woodbury-Smith2022 E
VPS13A     13623.p1chr9:
79932586-79932586
ATexonicDe novononsynonymous SNVNM_001018037
NM_001018038
NM_015186
NM_033305
c.A4811T
c.A4928T
c.A4928T
c.A4928T
p.D1604V
p.D1643V
p.D1643V
p.D1643V
16.82-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
VPS13A     2-0310-004chr9:
79859573-79859573
CAintronicDe novo--Yuen2017 G
VPS13A     2-1605-003chr9:
79869766-79869766
TGintronicDe novo--Yuen2017 G
VPS13A     1-0995-003chr9:
79822779-79822796
TTTGTTGTTGTTGTTGTTTTTGTTGTTGTTGTTintronicDe novo--Yuen2017 G
VPS13A     1-0119-004chr9:
79862299-79862299
TAexonicDe novosynonymous SNVNM_001018037
NM_001018038
NM_015186
NM_033305
c.T2025A
c.T2025A
c.T2025A
c.T2025A
p.L675L
p.L675L
p.L675L
p.L675L
--Yuen2017 G
VPS13A     2-0081-003chr9:
79999853-79999854
AGAUTR3De novo--Yuen2017 G
VPS13A     7-0058-003chr9:
79836847-79836847
GAintronicDe novo--Yuen2017 G
VPS13A     AU0780301chr9:
79910369-79910369
TAintronicDe novo--Yuen2017 G
Source Variant Information

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Paper alias:

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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
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