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Results for "SLC6A13"

Variant Events: 12

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
SLC6A13     AU050910chr12:
367378-367378
GAintronicDe novo--Yuen2017 G
SLC6A13     A24chr12:
356958-356958
AGintronicDe novo--Wu2018 G
SLC6A13     SSC02450chr12:
332363-332363
GAexonicDe novononsynonymous SNVNM_001190997
NM_016615
c.C1073T
c.C1349T
p.A358V
p.A450V
18.671.651E-5Lim2017 E
SLC6A13     1-0336-003chr12:
370444-370446
AGCAintronicDe novo--Yuen2017 G
SLC6A13     13980.p1chr12:
333337-333337
CTintronicDe novo-2.527E-5Satterstrom2020 E
SLC6A13     2-0070-004chr12:
385847-385847
GCintergenicDe novo--Yuen2017 G
SLC6A13     08C75368chr12:
335667-335667
GAexonicDe novononsynonymous SNVNM_001190997
NM_016615
c.C673T
c.C949T
p.L225F
p.L317F
22.3-Satterstrom2020 E
SLC6A13     11388.p1chr12:
332337-332337
CTexonicDe novononsynonymous SNVNM_001190997
NM_016615
c.G1099A
c.G1375A
p.V367M
p.V459M
16.951.0E-4Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
SLC6A13     AU099Achr12:
346455-346455
GAexonicDe novononsynonymous SNVNM_001190997
NM_016615
c.C289T
c.C565T
p.R97W
p.R189W
20.56.675E-5DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
SLC6A13     11298.p1chr12:
332363-332363
GAexonicDe novononsynonymous SNVNM_001190997
NM_016615
c.C1073T
c.C1349T
p.A358V
p.A450V
18.671.651E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Sanders2012 E
Satterstrom2020 E
SLC6A13     5-0014-004chr12:
384363-384363
GAintergenicDe novo--Yuen2017 G
SLC6A13     AU2089301chr12:
338346-338346
GAintronicDe 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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