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Results for "ATP8B3"

Variant Events: 9

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
ATP8B3     SP0014959chr19:
1807172-1807172
CTexonicDe novononsynonymous SNVNM_001178002
NM_138813
c.G451A
c.G610A
p.D151N
p.D204N
17.668.358E-6Feliciano2019 E
ATP8B3     13169.p1chr19:
1790822-1790822
ACexonicDe novononsynonymous SNVNM_001178002
NM_138813
c.T2201G
c.T2312G
p.V734G
p.V771G
12.21-Satterstrom2020 E
ATP8B3     iHART1884chr19:
1790806-1790811
GGCGAAGexonicPaternalframeshift deletionNM_001178002
NM_138813
c.2212_2216del
c.2323_2327del
p.F738fs
p.F775fs
-3.0E-4Ruzzo2019 G
ATP8B3     iHART1883chr19:
1790806-1790811
GGCGAAGexonicPaternalframeshift deletionNM_001178002
NM_138813
c.2212_2216del
c.2323_2327del
p.F738fs
p.F775fs
-3.0E-4Ruzzo2019 G
ATP8B3     152-HSC0079chr19:
1796779-1796779
GAexonicInheritednonsynonymous SNVNM_001178002
NM_138813
c.C1543T
c.C1684T
p.R515W
p.R562W
16.295.18E-5Patowary2019 E
ATP8B3     184-09-111250chr19:
1790751-1790751
CGintronicDe novo--Satterstrom2020 E
ATP8B3     AU011604chr19:
1808317-1808317
CTexonicDe novosynonymous SNVNM_001178002
NM_138813
c.G261A
c.G420A
p.T87T
p.T140T
10.28.825E-6Yuen2017 G
ATP8B3     12473.p1chr19:
1795849-1795849
ACintronicDe novo-8.569E-6Satterstrom2020 E
ATP8B3     iHART2463chr19:
1792135-1792135
CGsplicingPaternalsplicing15.984.0E-4Ruzzo2019 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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