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Results for "SLC12A9"

Variant Events: 7

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
SLC12A9     SSC09280chr7:
100459107-100459107
TGexonicDe novosynonymous SNVNM_001267814
NM_001267812
NM_020246
c.T1170G
c.T1437G
c.T1437G
p.G390G
p.G479G
p.G479G
--Lim2017 E
SLC12A9     14370.p1chr7:
100462949-100462949
TCUTR3De novo--Turner2016 G
SLC12A9     14539.p1chr7:
100460363-100460363
GAexonicDe novononsynonymous SNVNM_001267814
NM_001267812
NM_020246
c.G1505A
c.G1772A
c.G1772A
p.R502H
p.R591H
p.R591H
9.3738.237E-6Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
SLC12A9     iHART3290chr7:
100459434-100459435
GTGexonicMaternalframeshift deletionNM_001267814
NM_001267812
NM_020246
c.1346delT
c.1613delT
c.1613delT
p.V449fs
p.V538fs
p.V538fs
--Ruzzo2019 G
SLC12A9     08C74464chr7:
100453411-100453411
GAexonicDe novononsynonymous SNVNM_001267812
NM_020246
c.G400A
c.G400A
p.V134I
p.V134I
14.644.169E-5Satterstrom2020 E
SLC12A9     Lim2017:36822chr7:
100460363-100460363
GAexonicDe novononsynonymous SNVNM_001267814
NM_001267812
NM_020246
c.G1505A
c.G1772A
c.G1772A
p.R502H
p.R591H
p.R591H
9.3738.237E-6Lim2017 E
SLC12A9     iHART3291chr7:
100459434-100459435
GTGexonicMaternalframeshift deletionNM_001267814
NM_001267812
NM_020246
c.1346delT
c.1613delT
c.1613delT
p.V449fs
p.V538fs
p.V538fs
--Ruzzo2019 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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