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Results for "ATP8B2"

Variant Events: 12

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
ATP8B2     2-1735-003chr1:
154358390-154358390
AGintergenicDe novo--Yuen2017 G
ATP8B2     AU015903chr1:
154371261-154371261
GAintergenicDe novo--Yuen2017 G
ATP8B2     14220.p1chr1:
154321590-154321590
GAexonicDe novononsynonymous SNVNM_020452c.G3668Ap.G1223D9.902-Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
ATP8B2     PN400129chr1:
154321009-154321009
GAexonicUnknownnonsynonymous SNVNM_020452c.G3388Ap.D1130N26.22.0E-4Leblond2019 E
ATP8B2     PN400205chr1:
154321009-154321009
GAexonicUnknownnonsynonymous SNVNM_020452c.G3388Ap.D1130N26.22.0E-4Leblond2019 E
ATP8B2     iHART3094chr1:
154303923-154303923
CTexonicDe novononsynonymous SNVNM_001005855
NM_020452
c.C307T
c.C406T
p.R103C
p.R136C
24.5-Ruzzo2019 G
ATP8B2     2-1341-004chr1:
154354368-154354368
CTintergenicDe novo--Yuen2017 G
ATP8B2     SSC10461chr1:
154321590-154321590
GAexonicDe novononsynonymous SNVNM_020452c.G3668Ap.G1223D9.902-Lim2017 E
ATP8B2     PN400203chr1:
154321009-154321009
GAexonicUnknownnonsynonymous SNVNM_020452c.G3388Ap.D1130N26.22.0E-4Leblond2019 E
ATP8B2     AU050403chr1:
154297907-154297907
TGdownstream;upstreamDe novo--Yuen2017 G
ATP8B2     NDAR_INVEB022VLQ_wes1chr1:
154307007-154307007
CTexonicDe novosynonymous SNVNM_001005855
NM_020452
c.C777T
c.C876T
p.S259S
p.S292S
-8.248E-6DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
ATP8B2     UK10K_SKUSE5080168chr1:
154317610-154317610
AGexonicDe novononsynonymous SNVNM_020452c.A2549Gp.N850S26.7-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 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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