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Results for "SLC6A3"

Variant Events: 14

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
SLC6A3     2-0296-003chr5:
1448243-1448243
CTintergenicDe novo--Yuen2017 G
SLC6A3     2-1776-003chr5:
1429489-1429489
GAintronicDe novo--Trost2022 G
SLC6A3     REACH000387chr5:
1440143-1440143
GAintronicDe novo--Trost2022 G
SLC6A3     MSSNG00257-003chr5:
1415308-1415308
GAintronicDe novo--Trost2022 G
SLC6A3     SP0013778chr5:
1420685-1420685
GAexonicDe novononsynonymous SNVNM_001044c.C926Tp.S309F14.91-Trost2022 G
SLC6A3     4-0004-003chr5:
1394690-1394694
ACAGTAUTR3De novo--Trost2022 G
SLC6A3     SP0123162chr5:
1409228-1409228
CTexonicDe novononsynonymous SNVNM_001044c.G1411Ap.V471I15.491.119E-5Trost2022 G
SLC6A3     1-0032-003chr5:
1453036-1453036
TCintergenicDe novo--Yuen2017 G
SLC6A3     PN400532chr5:
1409159-1409159
CTexonicUnknownnonsynonymous SNVNM_001044c.G1480Ap.G494R18.84-Leblond2019 E
SLC6A3     SP0012645chr5:
1414757-1414757
GAintronicDe novo-2.0E-4Fu2022 E
Trost2022 G
SLC6A3     09C91248Achr5:
1414895-1414895
GAexonicDe novononsynonymous SNVNM_001044c.C1067Tp.T356M26.03.323E-5DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
SLC6A3     SP0010366chr5:
1394804-1394804
TAUTR3De novo--Fu2022 E
Trost2022 G
SLC6A3     AU2792302chr5:
1442546-1442546
GAintronicDe novo--Yuen2017 G
SLC6A3     PN400551chr5:
1409159-1409159
CTexonicUnknownnonsynonymous SNVNM_001044c.G1480Ap.G494R18.84-Leblond2019 E
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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