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Results for "ATP13A4"

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
ATP13A4     A16chr3:
193178090-193178090
TCintronicDe novo--Wu2018 G
ATP13A4     1-0882-003chr3:
193175567-193175567
CTintronicDe novo--Yuen2017 G
ATP13A4     5-0128-003chr3:
193150610-193150610
GAintronicDe novo--Yuen2017 G
ATP13A4     iHART3234chr3:
193174787-193174788
ACAsplicingPaternalsplicing-1.098E-5Ruzzo2019 G
ATP13A4     2-1364-003chr3:
193215279-193215279
TCintronicDe novo--Yuen2017 G
ATP13A4     iHART3235chr3:
193174787-193174788
ACAsplicingPaternalsplicing-1.098E-5Ruzzo2019 G
ATP13A4     A13chr3:
193176176-193176176
TGintronicDe novo--Wu2018 G
ATP13A4     AU4433301chr3:
193218584-193218589
GTTATTGTTATTATTintronicDe novo--Yuen2017 G
ATP13A4     2-1322-004chr3:
193172695-193172695
TCintronicDe novo--Yuen2017 G
ATP13A4     iHART2661chr3:
193201794-193201794
GAexonicPaternalstopgainNM_032279c.C739Tp.Q247X37.0-Ruzzo2019 G
ATP13A4     NDAR_INVMT684YC0_wes1chr3:
193232464-193232464
GTintronicDe novo--Kosmicki2017 E
Satterstrom2020 E
ATP13A4     Cukier2014:37994chr3:
193185128-193185128
AGexonicUnknownnonsynonymous SNVNM_032279c.T1091Cp.V364A14.350.0112Cukier2014 E
ATP13A4     AU047904chr3:
193172219-193172219
ATintronicDe 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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