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Results for "ATP1A4"

Variant Events: 10

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
ATP1A4     7-0102-003chr1:
160121097-160121097
TAupstreamDe novo--Yuen2017 G
ATP1A4     SJD_34chr1:
160143953-160143953
ATexonicPaternalstopgainNM_144699c.A2044Tp.K682X40.0-Toma2013 E
ATP1A4     iHART2237chr1:
160144538-160144538
GTsplicingMaternalsplicing18.949.907E-5Ruzzo2019 G
ATP1A4     iHART2239chr1:
160144538-160144538
GTsplicingMaternalsplicing18.949.907E-5Ruzzo2019 G
ATP1A4     13846.p1chr1:
160125943-160125943
CTexonicDe novononsynonymous SNVNM_144699c.C520Tp.P174S22.7-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
ATP1A4     Lim2017:70421chr1:
160125943-160125943
CTexonicDe novononsynonymous SNVNM_144699c.C520Tp.P174S22.7-Lim2017 E
ATP1A4     A23chr1:
160124388-160124388
AGintronicDe novo--Wu2018 G
ATP1A4     74-0180chr1:
160147313-160147313
GTexonicInheritednonsynonymous SNVNM_001001734
NM_144699
c.G3T
c.G2595T
p.M1I
p.M865I
16.37-Patowary2019 E
ATP1A4     70421chr1:
160125943-160125943
CTexonicDe novononsynonymous SNVNM_144699c.C520Tp.P174S22.7-Fu2022 E
ATP1A4     CA144Achr1:
160144436-160144436
GAexonicDe novononsynonymous SNVNM_144699c.G2210Ap.G737D24.8-Fu2022 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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