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Results for "SLC12A1"

Variant Events: 13

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
SLC12A1     2-1456-004chr15:
48533988-48533988
CTintronicDe novo--Yuen2017 G
SLC12A1     EGAN00001101404chr15:
48559885-48559885
GAexonicDe novononsynonymous SNVNM_000338
NM_001184832
c.G2282A
c.G2282A
p.R761Q
p.R761Q
6.8511.0E-4Satterstrom2020 E
SLC12A1     AU076704chr15:
48498677-48498677
AGintronicDe novo--Yuen2017 G
SLC12A1     2-0116-005chr15:
48578791-48578791
TCintronicDe novo--Yuen2017 G
SLC12A1     2-1529-003chr15:
48528957-48528957
ATintronicDe novo--Yuen2017 G
SLC12A1     2-1529-003chr15:
48499621-48499621
GTintronicDe novo--Yuen2017 G
SLC12A1     AU4336301chr15:
48557499-48557505
TACTAACTACintronicDe novo--Yuen2017 G
SLC12A1     63-343chr15:
48560744-48560744
GAintronicDe novo--Michaelson2012 G
SLC12A1     1-0467-003chr15:
48522347-48522347
ATintronicDe novo--Yuen2017 G
SLC12A1     AU3730301chr15:
48564808-48564808
AGintronicDe novo--Yuen2017 G
SLC12A1     13609.p1chr15:
48541743-48541743
GAintronicDe novo-2.0E-4Satterstrom2020 E
SLC12A1     2-1361-003chr15:
48572627-48572627
AGintronicDe novo--Yuen2016 G
Yuen2017 G
SLC12A1     1-0067-005chr15:
48518863-48518863
CTintronicDe novo--Yuen2017 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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