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Results for "ABCB9"

Variant Events: 11

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
ABCB9     7-0129-003chr12:
123457232-123457232
AGintergenicDe novo--Yuen2017 G
ABCB9     2-0045-003chr12:
123410966-123410966
CAintronicDe novo--Yuen2016 G
ABCB9     AU049304chr12:
123442965-123442965
GAintronicDe novo--Yuen2017 G
ABCB9     2-1549-003chr12:
123408114-123408114
AGintronicDe novo--Yuen2017 G
ABCB9     7-0123-003chr12:
123446762-123446762
GAintronicDe novo--Yuen2017 G
ABCB9     SSC00978chr12:
123430687-123430687
CTexonicDe novononsynonymous SNVNM_001243013
NM_001243014
NM_019624
NM_019625
NM_203444
c.G1136A
c.G1136A
c.G1136A
c.G1136A
c.G1136A
p.R379Q
p.R379Q
p.R379Q
p.R379Q
p.R379Q
36.04.13E-5Lim2017 E
ABCB9     13985.p1chr12:
123414608-123414608
GAexonicMosaicsynonymous SNVNM_001243013
NM_019624
NM_019625
c.C1962T
c.C2022T
c.C2151T
p.R654R
p.R674R
p.R717R
-1.0E-4Dou2017 E
ABCB9     1-0559-003chr12:
123421652-123421652
CTintronicDe novo--Yuen2017 G
ABCB9     1282011chr12:
123434494-123434494
CTintronicDe novo-2.478E-5Satterstrom2020 E
ABCB9     11367.p1chr12:
123430687-123430687
CTexonicDe novononsynonymous SNVNM_001243013
NM_001243014
NM_019624
NM_019625
NM_203444
c.G1136A
c.G1136A
c.G1136A
c.G1136A
c.G1136A
p.R379Q
p.R379Q
p.R379Q
p.R379Q
p.R379Q
36.04.13E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
ABCB9     SJD_10chr12:
123444365-123444365
CTexonicPaternalnonsynonymous SNVNM_001243013
NM_001243014
NM_019624
NM_019625
NM_203444
c.G418A
c.G418A
c.G418A
c.G418A
c.G418A
p.V140M
p.V140M
p.V140M
p.V140M
p.V140M
14.426.112E-5Toma2013 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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