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Results for "SLITRK1"

Variant Events: 17

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
SLITRK1     1-0387-003chr13:
84610753-84610753
CGintergenicDe novo--Yuen2016 G
Yuen2017 G
SLITRK1     1-0290-003chr13:
84463365-84463365
CGintergenicDe novo--Yuen2017 G
SLITRK1     1-0092-003chr13:
84664598-84664598
GAintergenicDe novo--Yuen2017 G
SLITRK1     AU048206chr13:
84460568-84460568
AGintergenicDe novo--Yuen2017 G
SLITRK1     2-1210-003chr13:
84521812-84521812
AGintergenicDe novo--Yuen2017 G
SLITRK1     1-0668-003chr13:
84542672-84542672
TCintergenicDe novo--Yuen2017 G
SLITRK1     1-0570-003chr13:
84450477-84450477
AGdownstreamDe novo--Trost2022 G
Yuen2017 G
SLITRK1     2-0129-004chr13:
84483757-84483757
GAintergenicDe novo--Yuen2017 G
SLITRK1     2-0063-005chr13:
84554302-84554302
ACintergenicDe novo--Yuen2017 G
SLITRK1     A30chr13:
84486518-84486518
CGintergenicDe novo--Wu2018 G
SLITRK1     5-0017-004chr13:
84534770-84534770
AGintergenicDe novo--Yuen2017 G
SLITRK1     1-0045-004chr13:
84691196-84691196
GGAintergenicDe novo--Yuen2017 G
SLITRK1     AU2168301chr13:
84456239-84456239
AGUTR5De novo--Trost2022 G
SLITRK1     7-0058-003chr13:
84642927-84642927
TTAAGGintergenicDe novo--Yuen2017 G
SLITRK1     SJD_59.3chr13:
84455148-84455148
GTexonicDe novosynonymous SNVNM_052910
NM_001281503
c.C495A
c.C495A
p.L165L
p.L165L
--Trost2022 G
Zhou2022 GE
SLITRK1     2-0289-004chr13:
84520956-84520956
TAintergenicDe novo--Yuen2017 G
SLITRK1     Hu2022:46chr13:
84455351-84455351
CTexonicUnknownnonsynonymous SNVNM_052910
NM_001281503
c.G292A
c.G292A
p.V98I
p.V98I
13.1-Hu2022 T
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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