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Results for "ATP6V0A2"

Variant Events: 13

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
ATP6V0A2     Li2017:18chr12:
124210793-124210793
TGexonicUnknownnonsynonymous SNVNM_012463c.T482Gp.L161W21.61.647E-5Li2017 T
ATP6V0A2     2-0149-005chr12:
124226179-124226179
TGintronicDe novo--Yuen2017 G
ATP6V0A2     Li2017:19547chr12:
124209258-124209260
CTGCexonicUnknownframeshift deletionNM_012463c.353_354delp.L118fs--Li2017 T
ATP6V0A2     Li2017:19805chr12:
124241452-124241452
CTexonicUnknownnonsynonymous SNVNM_012463c.C2384Tp.A795V14.852.0E-4Li2017 T
ATP6V0A2     iHART3055chr12:
124209294-124209294
CCACATGCTGexonicPaternalframeshift insertionNM_012463c.388_389insACATGCTGp.H130fs-8.237E-6Ruzzo2019 G
ATP6V0A2     Li2017:18482 Complex Event; expand row to view variants  Unknownframeshift deletion, frameshift insertionNM_012463
NM_012463
c.1562delT
c.1560_1561insTGCAAAGG
p.I521fs
p.S520fs
--Li2017 T
Li2017 T
ATP6V0A2     AU3951301chr12:
124203043-124203043
ACintronicDe novo--Yuen2017 G
ATP6V0A2     Cukier2014:7637chr12:
124241506-124241506
CTexonicUnknownnonsynonymous SNVNM_012463c.C2438Tp.A813V36.00.0284Cukier2014 E
ATP6V0A2     1-0373-003chr12:
124244146-124244146
TAUTR3De novo--Yuen2017 G
ATP6V0A2     Li2017:17590chr12:
124242485-124242485
ACexonicUnknownnonsynonymous SNVNM_012463c.A2477Cp.Q826P24.4-Li2017 T
ATP6V0A2     iHART3052chr12:
124209294-124209294
CCACATGCTGexonicPaternalframeshift insertionNM_012463c.388_389insACATGCTGp.H130fs-8.237E-6Ruzzo2019 G
ATP6V0A2     Li2017:18907chr12:
124210793-124210793
TGexonicUnknownnonsynonymous SNVNM_012463c.T482Gp.L161W21.61.647E-5Li2017 T
ATP6V0A2     1-0259-005chr12:
124222473-124222475
CCACintronicDe 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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