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Results for "SLC5A1"

Variant Events: 10

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
SLC5A1     13634.p1chr22:
32480957-32480957
AGexonicDe novononsynonymous SNVNM_001256314
NM_000343
c.A575G
c.A956G
p.Y192C
p.Y319C
14.13-Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
SLC5A1     1-0401-003chr22:
32485448-32485459
TGAAGTTTAATATintronicDe novo--Yuen2017 G
SLC5A1     SSC08014chr22:
32480957-32480957
AGexonicDe novononsynonymous SNVNM_001256314
NM_000343
c.A575G
c.A956G
p.Y192C
p.Y319C
14.13-Lim2017 E
SLC5A1     AU4215302chr22:
32460494-32460494
ATintronicDe novo--Yuen2017 G
SLC5A1     SP0038120chr22:
32487744-32487744
CTexonicDe novosynonymous SNVNM_001256314
NM_000343
c.C894T
c.C1275T
p.A298A
p.A425A
-0.0502Feliciano2019 E
SLC5A1     5-0128-003chr22:
32500787-32500787
TCexonicDe novosynonymous SNVNM_001256314
NM_000343
c.T1299C
c.T1680C
p.C433C
p.C560C
--Yuen2017 G
SLC5A1     AU045512chr22:
32464751-32464751
AGintronicDe novo--Yuen2017 G
SLC5A1     1-0556-003chr22:
32457343-32457343
AGintronicDe novo--Yuen2017 G
SLC5A1     2-1279-003chr22:
32475110-32475133
AAAACAAACAAACAAACAAACAAAAAAACAAACAAACAAACAAAintronicDe novo--Yuen2017 G
SLC5A1     AU2089302chr22:
32444427-32444427
CGintronicDe novo--Yuen2017 G
Source Variant Information

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Source:

Paper alias:

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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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