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Results for "ATP12A"

Variant Events: 8

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
ATP12A     13578.p1 Complex Event; expand row to view variants  De novononsynonymous SNV, nonframeshift deletion, nonframeshift substitutionNM_001185085
NM_001676
NM_001185085
NM_001676
NM_001185085
NM_001676
NM_001185085
NM_001676
c.2113_2118del
c.2095_2100del
c.2112_2117del
c.2094_2099del
c.2110_2120CCCCG
c.2092_2102CCCCG
c.A2120G
c.A2102G
p.705_706del
p.699_700del
p.704_706del
p.698_700del
N/A
N/A
p.Q707R
p.Q701R
8.464-Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Krumm2015 E
Satterstrom2020 E
ATP12A     2-1514-003chr13:
25292045-25292045
GAintergenicDe novo--Yuen2017 G
ATP12A     AU4013301chr13:
25256302-25256309
GTGTATGTGTGTintronicDe novo--Yuen2017 G
ATP12A     AU3865301chr13:
25333701-25333701
TCintergenicDe novo--Yuen2017 G
ATP12A     1-0582-003chr13:
25314399-25314399
GAintergenicDe novo--Yuen2017 G
ATP12A     2-1128-003chr13:
25307537-25307537
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
ATP12A     1-0294-003chr13:
25287068-25287068
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
ATP12A     AU2863302chr13:
25277589-25277589
ACintronicDe novo--Yuen2017 G
Source Variant Information

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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
Curation notesView
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