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Results for "ATP10A"

Variant Events: 20

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
ATP10A     2-0309-004chr15:
25984802-25984802
GAintronicDe novo--Yuen2017 G
ATP10A     12132.p1chr15:
25924832-25924832
CTexonicDe novononsynonymous SNVNM_024490c.G4156Ap.E1386K12.4-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
ATP10A     2-0289-004chr15:
25957857-25957857
GAintronicDe novo--Yuen2017 G
ATP10A     14465.p1chr15:
25925337-25925337
TCexonicDe novononsynonymous SNVNM_024490c.A3797Gp.Q1266R14.84-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
ATP10A     11432.p1chr15:
25966848-25966848
CTexonicDe novononsynonymous SNVNM_024490c.G1319Ap.R440Q17.918.239E-6Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G
ATP10A     13757.p1chr15:
25972284-25972284
TGintronicDe novo-1.654E-5Satterstrom2020 E
ATP10A     A4chr15:
26110932-26110932
GTintergenicDe novo--Wu2018 G
ATP10A     D’Gama2015:340chr15:
26026198-26026198
GAexonicUnknownnonsynonymous SNVNM_024490c.C622Tp.R208W19.396.591E-5D’Gama2015 T
ATP10A     Lim2017:68671chr15:
25924832-25924832
CTexonicDe novononsynonymous SNVNM_024490c.G4156Ap.E1386K12.4-Lim2017 E
ATP10A     AU4429301chr15:
25946647-25946647
AGintronicDe novo--Yuen2017 G
ATP10A     SSC11965chr15:
25925337-25925337
TCexonicDe novononsynonymous SNVNM_024490c.A3797Gp.Q1266R14.84-Lim2017 E
ATP10A     1-0971-003chr15:
25979044-25979044
CTintronicDe novo--Yuen2017 G
ATP10A     AU4273304chr15:
26055559-26055559
GAintronicDe novo--Yuen2017 G
ATP10A     PN400317chr15:
25971191-25971191
GCexonicUnknownnonsynonymous SNVNM_024490c.C886Gp.R296G32.02.0E-4Leblond2019 E
ATP10A     F8787-1chr15:
26026323-26026323
CTexonicDe novononsynonymous SNVNM_024490c.G497Ap.G166E25.7-Montenegro2019 E
ATP10A     1-0067-004chr15:
26088045-26088047
TTATintronicDe novo--Yuen2017 G
ATP10A     AU4072303chr15:
25972689-25972689
CTintronicDe novo--Yuen2017 G
ATP10A     1-0555-003chr15:
26021469-26021469
GAintronicDe novo--Yuen2017 G
ATP10A     2-1549-003chr15:
26063504-26063507
CAAACAAintronicDe novo--Yuen2017 G
ATP10A     1-0447-003chr15:
26126547-26126547
TCintergenicDe 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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