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Results for "SLC16A1"

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
SLC16A1     DEASD_0149_001chr1:
113460123-113460127
AGAAGAexonicDe novoframeshift deletionNM_001166496
NM_003051
c.901_904del
c.901_904del
p.L301fs
p.L301fs
--Satterstrom2020 E
SLC16A1     Chen2017:4chr1:
113460234-113460234
AGexonicDe novononsynonymous SNVNM_001166496
NM_003051
c.T794C
c.T794C
p.L265P
p.L265P
18.63-Chen2017 E
SLC16A1     AU0146302chr1:
113488229-113488229
GAintronicDe novo--Yuen2017 G
SLC16A1     200675280@1082034420chr1:
113460234-113460234
AGexonicDe novononsynonymous SNVNM_001166496
NM_003051
c.T794C
c.T794C
p.L265P
p.L265P
18.63-Satterstrom2020 E
SLC16A1     MR_326chr1:
113460038-113460038
CAexonicDe novononsynonymous SNVNM_001166496
NM_003051
c.G990T
c.G990T
p.Q330H
p.Q330H
17.56-Satterstrom2020 E
SLC16A1     2-0122-003chr1:
113472625-113472625
ATintronicDe novo--Yuen2017 G
SLC16A1     AU2022302chr1:
113462146-113462146
GCintronicDe novo--Yuen2017 G
Source Variant Information

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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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