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Results for "SLC26A5"

Variant Events: 5

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
SLC26A5     7-0055-003chr7:
103050837-103050837
CAexonicDe novononsynonymous SNVNM_001167962
NM_198999
NM_206883
NM_206884
NM_206885
c.G730T
c.G730T
c.G730T
c.G730T
c.G730T
p.V244L
p.V244L
p.V244L
p.V244L
p.V244L
14.54-Yuen2017 G
SLC26A5     08C75209chr7:
103061175-103061175
ATintronicDe novo--Satterstrom2020 E
SLC26A5     AU049304chr7:
103042511-103042511
GAintronicDe novo--Yuen2017 G
SLC26A5     SP0017106chr7:
103014907-103014907
GAexonicDe novononsynonymous SNVNM_001167962
NM_198999
c.C2078T
c.C2174T
p.S693L
p.S725L
12.298.247E-6Feliciano2019 E
SLC26A5     11336.p1chr7:
103014942-103014942
GCexonicDe novononsynonymous SNVNM_001167962
NM_198999
c.C2043G
c.C2139G
p.S681R
p.S713R
11.38-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Sanders2012 E
Satterstrom2020 E
Wilfert2021 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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