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Results for "SLC6A13"

Variant Events: 23

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     1-1055-003chr12:
347873-347873		TCintronicDe novo--Trost2022 G
SLC6A13     MSSNG00421-005chr12:
360183-360183		AGintronicDe novo--Trost2022 G
SLC6A13     SSC10197chr12:
333337-333337		CTintronicDe novo-2.527E-5Trost2022 G
SLC6A13     7-0227-003chr12:
343641-343641		AGintronicDe novo--Trost2022 G
SLC6A13     6583chr12:
332337-332337		CTexonicDe novononsynonymous SNVNM_001190997
NM_016615		c.G1099A
c.G1375A		p.V367M
p.V459M		16.951.0E-4Trost2022 G
SLC6A13     SP0071535chr12:
333071-333071		GAintronicDe novo--Trost2022 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-5Fu2022 E
Lim2017 E
Trost2022 G
SLC6A13     AU2624301chr12:
335667-335667		GAexonicnonsynonymous SNVNM_001190997
NM_016615		c.C673T
c.C949T		p.L225F
p.L317F		22.3-Zhou2022 GE
SLC6A13     1-0336-003chr12:
370444-370446		AGCAintronicDe novo--Trost2022 G
Yuen2017 G
SLC6A13     1-1202-003chr12:
351879-351879		CTexonicDe novononsynonymous SNVNM_016615c.G379Ap.V127I10.391.481E-5Trost2022 G
Zhou2022 GE
SLC6A13     AU099Achr12:
346455-346455		GAexonicDe novononsynonymous SNVNM_001190997
NM_016615		c.C289T
c.C565T		p.R97W
p.R189W		20.56.675E-5DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
SLC6A13     5-0014-004chr12:
384363-384363		GAintergenicDe novo--Yuen2017 G
SLC6A13     AU050910chr12:
367378-367378		GAintronicDe novo--Trost2022 G
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-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
SLC6A13     mAGRE4126chr12:
351796-351796		GTexonicPaternalstopgainNM_016615c.C462Ap.Y154X34.0-Cirnigliaro2023 G
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
Zhou2022 GE
SLC6A13     mAGRE4125chr12:
351796-351796		GTexonicPaternalstopgainNM_016615c.C462Ap.Y154X34.0-Cirnigliaro2023 G
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
Zhou2022 GE
SLC6A13     mAGRE4668chr12:
344336-344336		GAexonicPaternalstopgainNM_001190997
NM_016615		c.C475T
c.C751T		p.R159X
p.R251X		23.82.0E-4Cirnigliaro2023 G
SLC6A13     AU2089301chr12:
338346-338346		GAintronicDe novo--Trost2022 G
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
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