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Results for "SLC12A9"

Variant Events: 16

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     MCD-033-4chr7:
100463997-100463997		GAexonicMaternalnonsynonymous SNVNM_020246c.G2515Ap.A839T10.360.0019Tuncay2023 G
SLC12A9     14370.p1chr7:
100462949-100462949		TCUTR3De novo--Turner2016 G
SLC12A9     AU4093302chr7:
100459434-100459435		GTGexonicMaternalframeshift deletionNM_001267814
NM_001267812
NM_020246		c.1346delT
c.1613delT
c.1613delT		p.V449fs
p.V538fs
p.V538fs		--Cirnigliaro2023 G
SLC12A9     TRE_956chr7:
100457514-100457514		CTexonicDe novosynonymous SNVNM_001267814
NM_001267812
NM_020246		c.C718T
c.C985T
c.C985T		p.L240L
p.L329L
p.L329L		--Fu2022 E
SLC12A9     SP0023559chr7:
100454533-100454533		CTexonicDe novosynonymous SNVNM_001267814
NM_001267812
NM_020246		c.C225T
c.C492T
c.C492T		p.Y75Y
p.Y164Y
p.Y164Y		-4.999E-5Fu2022 E
Trost2022 G
Zhou2022 GE
SLC12A9     AU2466301chr7:
100453411-100453411		GAexonicnonsynonymous SNVNM_001267812
NM_020246		c.G400A
c.G400A		p.V134I
p.V134I		14.644.169E-5Zhou2022 GE
SLC12A9     7-0257-003chr7:
100449762-100449762		AGupstreamDe novo--Trost2022 G
SLC12A9     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-6Fu2022 E
Trost2022 G
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     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
Zhou2022 GE
SLC12A9     AU4093301chr7:
100459434-100459435		GTGexonicMaternalframeshift deletionNM_001267814
NM_001267812
NM_020246		c.1346delT
c.1613delT
c.1613delT		p.V449fs
p.V538fs
p.V538fs		--Cirnigliaro2023 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-5Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
SLC12A9     MCD-033-4chr7:
100462935-100462935		TCexonicPaternalnonsynonymous SNVNM_001267812c.T1885Cp.F629L12.212.0E-4Tuncay2023 G
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
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