or
or
Exact

Results for "ATP8B1"

Variant Events: 40

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
ATP8B1     2-1242-003chr18:
55376707-55376707
CGintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
ATP8B1     2-1280-003chr18:
55418555-55418570
AATATATATATATATAAATATATATATATAintronicDe novo--Yuen2017 G
ATP8B1     5-0084-003chr18:
55533488-55533488
TGintergenicDe novo--Yuen2017 G
ATP8B1     2-0286-003chr18:
55364733-55364733
CCAintronicDe novo--Trost2022 G
Yuen2017 G
ATP8B1     1-0246-004chr18:
55425670-55425670
CTintronicDe novo--Trost2022 G
Yuen2017 G
ATP8B1     11829-1chr18:
55398638-55398638
CAintronicDe novo--Fu2022 E
ATP8B1     DEASD_0122_001chr18:
55371870-55371870
CTexonicDe novononsynonymous SNVNM_005603c.G310Ap.A104T14.198.397E-5DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Zhou2022 GE
ATP8B1     1-0675-003chr18:
55524168-55524168
CAintergenicDe novo--Yuen2017 G
ATP8B1     GEA484chr18:
55398642-55398642
GTintronicDe novo--Fu2022 E
ATP8B1     ASC_CA_74_Achr18:
55398642-55398642
GTintronicDe novo--Fu2022 E
ATP8B1     AU054304chr18:
55517944-55517944
AGintergenicDe novo--Yuen2017 G
ATP8B1     1-0191-004chr18:
55653200-55653200
AGintergenicDe novo--Yuen2017 G
ATP8B1     1-0436-003chr18:
55320989-55320989
CGintronicDe novo--Yuen2016 G
ATP8B1     2-1153-003chr18:
55454989-55454989
TAintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
ATP8B1     2-1647-003chr18:
55321339-55321339
CTintronicDe novo--Trost2022 G
ATP8B1     3-0198-000chr18:
55372917-55372917
GAintronicDe novo--Trost2022 G
ATP8B1     AU055004chr18:
55576911-55576911
GAintergenicDe novo--Yuen2017 G
ATP8B1     2-1514-003chr18:
55524541-55524541
GTintergenicDe novo--Yuen2017 G
ATP8B1     REACH000219chr18:
55398631-55398631
GAintronicDe novo--Trost2022 G
ATP8B1     5-5123-003chr18:
55402364-55402364
AGintronicDe novo--Trost2022 G
ATP8B1     MT_70.3chr18:
55398626-55398626
TAintronicDe novo--Trost2022 G
ATP8B1     7-0133-003chr18:
55432893-55432893
TCintronicDe novo--Yuen2017 G
ATP8B1     AU024606chr18:
55690551-55690551
TCintergenicDe novo--Yuen2017 G
ATP8B1     AM03ZF-03chr18:
55398628-55398628
ACintronicDe novo--Trost2022 G
ATP8B1     MSSNG00133-003chr18:
55382187-55382187
CTintronicDe novo--Trost2022 G
ATP8B1     SJD_50.4chr18:
55395115-55395115
CTintronicDe novo--Trost2022 G
ATP8B1     200675779@1082034642chr18:
55686295-55686295
AACintergenicDe novo--Satterstrom2020 E
Trost2022 G
ATP8B1     REACH000001chr18:
55377971-55377972
ATAintronicDe novo--Trost2022 G
ATP8B1     AM01ZF-03chr18:
55380447-55380447
CTintronicDe novo--Trost2022 G
ATP8B1     2-0242-003chr18:
55371839-55371843
TCAAATexonicDe novoframeshift deletionNM_005603c.337_340delp.F113fs--Trost2022 G
Zhou2022 GE
ATP8B1     1-0271-003chr18:
55534989-55534989
CTintergenicDe novo--Yuen2017 G
ATP8B1     1-0906-003chr18:
55636292-55636292
TCintergenicDe novo--Yuen2017 G
ATP8B1     SP0026272chr18:
55328434-55328434
AGexonicMosaicsynonymous SNVNM_005603c.T2679Cp.D893D--Feliciano2019 E
ATP8B1     AU4476302chr18:
55454456-55454456
CTintronicDe novo--Trost2022 G
Yuen2017 G
ATP8B1     2-1480-003chr18:
55481438-55481438
CAintergenicDe novo--Yuen2016 G
Yuen2017 G
ATP8B1     2-1322-003chr18:
55439272-55439272
GTintronicDe novo--Trost2022 G
Yuen2017 G
ATP8B1     SP0124588chr18:
55322545-55322545
CTexonicDe novononsynonymous SNVNM_005603c.G2812Ap.V938M30.0-Fu2022 E
Zhou2022 GE
ATP8B1     SP0035313chr18:
55322634-55322634
ATexonicDe novononsynonymous SNVNM_005603c.T2723Ap.V908D22.0-Fu2022 E
Zhou2022 GE
ATP8B1     AU4476302chr18:
55563171-55563171
GAintergenicDe novo--Yuen2017 G
ATP8B1     1-0481-003chr18:
55700638-55700638
TCintergenicDe novo--Yuen2017 G
Source Variant Information

, -

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
More