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Results for "SLC6A1"

Variant Events: 51

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
SLC6A1     211-5563-3chr3:
11067982-11067982		TCexonicDe novononsynonymous SNVNM_003042c.T1015Cp.F339L34.0-O’Roak2014 T
SLC6A1     ZH50743chr3:
11060364-11060365		CTCexonicDe novoframeshift deletionNM_003042c.452delTp.L151fs--O’Roak2014 T
SLC6A1     AGRE_AU038204chr3:
11067143-11067143		CAexonicDe novostopgainNM_003042c.C723Ap.Y241X37.0-Wang2020 T
SLC6A1     AGRE_03C16890chr3:
11067143-11067143		CAexonicDe novostopgainNM_003042c.C723Ap.Y241X37.0-Wang2020 T
SLC6A1     AU008505chr3:
11112036-11112036		GCintergenicDe novo--Yuen2017 G
SLC6A1     2-1567-004chr3:
11081722-11081722		GTdownstreamDe novo--Yuen2017 G
SLC6A1     2-1155-003chr3:
11067982-11067982		TCexonicDe novononsynonymous SNVNM_003042c.T1015Cp.F339L34.0-Trost2022 G
Wang2020 T
Yuen2016 G
Yuen2017 G
Zhou2022 GE
SLC6A1     SP0062483chr3:
11064070-11064089		CCGCTGGCCACTGGCCATCACexonicDe novoframeshift deletionNM_003042c.631_649delp.R211fs--Antaki2022 GE
Fu2022 E
Zhou2022 GE
SLC6A1     MT_178.4chr3:
11069756-11069756		GAintronicDe novo--Trost2022 G
SLC6A1     TAS_F4013Ychr3:
11064033-11064033		ACexonicDe novononsynonymous SNVNM_003042c.A593Cp.H198P24.7-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
SLC6A1     AU3861302chr3:
11040192-11040192		GAintronicDe novo--Trost2022 G
Yuen2017 G
SLC6A1     SP0289806chr3:
11078547-11078547		GAsplicingsplicing17.5-Zhou2022 GE
SLC6A1     SP0165699chr3:
11072886-11072888		CTTCexonicframeshift deletionNM_003042c.1348_1349delp.F450fs--Zhou2022 GE
SLC6A1     SP0168055chr3:
11059120-11059120		GCexonicDe novononsynonymous SNVNM_003042c.G223Cp.G75R17.74-Trost2022 G
Zhou2022 GE
SLC6A1     SP0355487chr3:
11070971-11070971		GAexonicnonsynonymous SNVNM_003042c.G1256Ap.R419H24.5-Zhou2022 GE
SLC6A1     SP0205964chr3:
11067472-11067472		CTexonicnonsynonymous SNVNM_003042c.C863Tp.A288V29.7-Zhou2022 GE
SLC6A1     1-0186-005chr3:
11172207-11172207		CGintergenicDe novo--Yuen2017 G
SLC6A1     2-1335-004chr3:
11118394-11118394		GTintergenicDe novo--Yuen2017 G
SLC6A1     13832.p1chr3:
11067472-11067472		CTexonicDe novononsynonymous SNVNM_003042c.C863Tp.A288V29.7-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2014 T
Satterstrom2020 E
Wang2020 T
Zhou2022 GE
SLC6A1     13734.p1chr3:
11067505-11067505		GTexonicUnknown, De novononsynonymous SNVNM_003042c.G896Tp.G299V24.3-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wang2020 T
Zhou2022 GE
SLC6A1     Chen2021:51chr3:
11064155-11064155		GAsplicingDe novosplicing21.2-Chen2021 GET
SLC6A1     14340.p1chr3:
11076337-11076337		GAexonicDe novononsynonymous SNVNM_003042c.G1648Ap.G550R15.95-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2014 T
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
Zhou2022 GE
SLC6A1     Chen2021:50chr3:
11067962-11067962		TGexonicDe novononsynonymous SNVNM_003042c.T995Gp.M332R24.3-Chen2021 GET
SLC6A1     SSC10931chr3:
11076337-11076337		GAexonicDe novononsynonymous SNVNM_003042c.G1648Ap.G550R15.95-Fu2022 E
Lim2017 E
Trost2022 G
SLC6A1     SSC09465chr3:
11067472-11067472		CTexonicDe novononsynonymous SNVNM_003042c.C863Tp.A288V29.7-Fu2022 E
Lim2017 E
Trost2022 G
SLC6A1     Leuven_46361chr3:
11070944-11070944		AGexonicUnknownnonsynonymous SNVNM_003042c.A1229Gp.D410G28.3-Wang2020 T
SLC6A1     ITAN_469chr3:
11064023-11064023		CTexonicPaternalnonsynonymous SNVNM_003042c.C583Tp.R195C31.08.415E-6Wang2020 T
SLC6A1     03C16890chr3:
11067143-11067143		CAexonicDe novostopgainNM_003042c.C723Ap.Y241X37.0-Stessman2017 T
SLC6A1     ACGC_M23713chr3:
11075334-11075334		GAexonicUnknownnonsynonymous SNVNM_003042c.G1436Ap.R479Q25.36.685E-5Wang2020 T
SLC6A1     AU038204chr3:
11067143-11067143		CAexonicDe novostopgainNM_003042c.C723Ap.Y241X37.0-Stessman2017 T
Stessman2017 T
Wang2020 T
Yuen2017 G
Zhou2022 GE
SLC6A1     ACGC_M30580chr3:
11070520-11070520		GTexonicUnknownnonsynonymous SNVNM_003042c.G1178Tp.G393V25.1-Wang2020 T
SLC6A1     ACGC_SD0314.p1chr3:
11067522-11067522		GAexonicUnknownnonsynonymous SNVNM_003042c.G913Ap.A305T24.3-Wang2020 T
SLC6A1     NDAR_INVUD365NYJ_wes1chr3:
11068045-11068045		GAexonicUnknown, De novononsynonymous SNVNM_003042c.G1078Ap.G360S35.0-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wang2020 T
Zhou2022 GE
SLC6A1     ACGC_GX0579.p1chr3:
11076248-11076248		CTexonicUnknownnonsynonymous SNVNM_003042c.C1559Tp.T520M23.32.478E-5Wang2020 T
SLC6A1     TAS_F0207Xchr3:
11067528-11067528		GAexonicDe novononsynonymous SNVNM_003042c.G919Ap.G307R24.5-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
SLC6A1     Leuven_413832chr3:
11076248-11076248		CTexonicUnknownnonsynonymous SNVNM_003042c.C1559Tp.T520M23.32.478E-5Wang2020 T
SLC6A1     111767chr3:
11059079-11059079		CGexonicDe novononsynonymous SNVNM_003042c.C182Gp.A61G31.0-Fu2022 E
SLC6A1     13734_p1chr3:
11067505-11067505		GTexonicDe novononsynonymous SNVNM_003042c.G896Tp.G299V24.3-Fu2022 E
SLC6A1     3-0723-000chr3:
11059607-11059607		AGexonicDe novononsynonymous SNVNM_003042c.A317Gp.Q106R25.1-Trost2022 G
Zhou2022 GE
SLC6A1     22231.p1chr3:
11059076-11059076		AGexonicnonsynonymous SNVNM_003042c.A179Gp.Y60C20.3-Zhou2022 GE
SLC6A1     ASC_4E252chr3:
11059057-11059057		CTexonicDe novononsynonymous SNVNM_003042c.C160Tp.L54F27.1-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
SLC6A1     MSSNG00411-003chr3:
11067181-11067181		TCexonicDe novononsynonymous SNVNM_003042c.T761Cp.L254P23.0-Trost2022 G
Zhou2022 GE
SLC6A1     Uddin2014:7chr3:
11067472-11067472		CTexonicDe novononsynonymous SNVNM_003042c.C863Tp.A288V29.7-Uddin2014 E
SLC6A1     AU038203chr3:
11067143-11067143		CAexonicDe novostopgainNM_003042c.C723Ap.Y241X37.0-Wang2020 T
Yuen2017 G
Zhou2022 GE
SLC6A1     SanDiego_00560-N3L9Achr3:
11067240-11067240		CTexonicUnknownnonsynonymous SNVNM_003042c.C820Tp.P274S27.2-Wang2020 T
SLC6A1     P0095chr3:
11067962-11067962		TGexonicDe novononsynonymous SNVNM_003042c.T995Gp.M332R24.3-Xiong2019 ET
SLC6A1     242-08-110053chr3:
11067472-11067472		CTexonicDe novononsynonymous SNVNM_003042c.C863Tp.A288V29.7-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
SLC6A1     M0329chr3:
11064155-11064155		GAsplicingDe novosplicing21.2-Xiong2019 ET
SLC6A1     413832chr3:
11076248-11076248		CTexonicUnknownnonsynonymous SNVNM_003042c.C1559Tp.T520M23.32.478E-5Stessman2017 T
SLC6A1     46361chr3:
11070944-11070944		AGexonicUnknownnonsynonymous SNVNM_003042c.A1229Gp.D410G28.3-Stessman2017 T
SLC6A1     Miyake2023:19052chr3:
11059051-11059051		GTexonicDe novononsynonymous SNVNM_003042c.G154Tp.D52Y26.3-Miyake2023 E
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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