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Results for "SLC6A8"

Variant Events: 9

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
SLC6A8     MR_1302chrX:
152956801-152956804
CCTACexonicDe novononframeshift deletionNM_001142805
NM_001142806
NM_005629
c.438_440del
c.93_95del
c.438_440del
p.146_147del
p.31_32del
p.146_147del
--Satterstrom2020 E
SLC6A8     AN16641chrX:
152954233-152954234
CGCexonicUnknownframeshift deletionNM_001142805
NM_005629
c.205delG
c.205delG
p.A69fs
p.A69fs
--D’Gama2015 T
SLC6A8     SP0012947chrX:
152958752-152958752
CTexonicDe novononsynonymous SNVNM_001142805
NM_001142806
NM_005629
c.C947T
c.C602T
c.C947T
p.S316F
p.S201F
p.S316F
21.9-Feliciano2019 E
SLC6A8     Chen2021:32chrX:
152960032-152960032
CTexonicMaternalstopgainNM_001142805
NM_001142806
NM_005629
c.C1510T
c.C1195T
c.C1540T
p.R504X
p.R399X
p.R514X
33.0-Chen2021 GET
SLC6A8     13799.p1chrX:
152958717-152958717
GTsplicingDe novosplicing14.8-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
SLC6A8     11537.p1chrX:
152959433-152959436
GTTCGexonicDe novononframeshift deletionNM_001142805
NM_001142806
NM_005629
c.1186_1188del
c.871_873del
c.1216_1218del
p.396_396del
p.291_291del
p.406_406del
--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
SLC6A8     13557.p1chrX:
152959900-152959900
CTexonicDe novosynonymous SNVNM_001142805
NM_001142806
NM_005629
c.C1464T
c.C1149T
c.C1494T
p.Y488Y
p.Y383Y
p.Y498Y
-0.002Iossifov2014 E
Kosmicki2017 E
SLC6A8     Li2017:16082chrX:
152959387-152959387
CAexonicUnknownnonsynonymous SNVNM_001142805
NM_001142806
NM_005629
c.C1139A
c.C824A
c.C1169A
p.P380Q
p.P275Q
p.P390Q
17.59-Li2017 T
SLC6A8     B0657chrX:
152960032-152960032
CTexonicMaternalstopgainNM_001142805
NM_001142806
NM_005629
c.C1510T
c.C1195T
c.C1540T
p.R504X
p.R399X
p.R514X
33.0-Xiong2019 ET
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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