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Results for "SH3TC1"

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
SH3TC1     2-1477-003chr4:
8223321-8223321
TCintronicDe novo--Yuen2016 G
Yuen2017 G
SH3TC1     iHART1880chr4:
8242424-8242424
GAsplicingPaternalsplicing12.183.309E-5Ruzzo2019 G
SH3TC1     iHART3044chr4:
8238049-8238066
GGAGCTGCGGCTGTGCAAGexonicPaternalframeshift deletionNM_018986c.3451_3467delp.E1151fs--Ruzzo2019 G
SH3TC1     DEASD_0100_001chr4:
8207326-8207326
GAintronicDe novo3.4436.249E-5DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
SH3TC1     2-1357-004chr4:
8225799-8225801
CATCintronicDe novo--Yuen2017 G
SH3TC1     13649.p1chr4:
8238464-8238464
GCintronicDe novo--Turner2016 G
SH3TC1     AU2863302chr4:
8258309-8258309
CTintergenicDe novo--Yuen2017 G
SH3TC1     12828.p1chr4:
8230140-8230140
GAexonicDe novononsynonymous SNVNM_018986c.G2719Ap.A907T18.03-Ji2016 E
Krumm2015 E
Lim2017 E
Satterstrom2020 E
SH3TC1     2-1429-004chr4:
8258396-8258396
GAintergenicDe novo--Yuen2017 G
SH3TC1     iHART2908chr4:
8233884-8233897
GTGAGGGCTGGCTCGsplicingPaternalsplicing-9.759E-6Ruzzo2019 G
SH3TC1     iHART3047chr4:
8238049-8238066
GGAGCTGCGGCTGTGCAAGexonicPaternalframeshift deletionNM_018986c.3451_3467delp.E1151fs--Ruzzo2019 G
SH3TC1     iHART2909chr4:
8233884-8233897
GTGAGGGCTGGCTCGsplicingPaternalsplicing-9.759E-6Ruzzo2019 G
SH3TC1     1-0435-003chr4:
8268142-8268142
GCintergenicDe novo--Yuen2017 G
SH3TC1     AU4028302chr4:
8269926-8269926
CGintergenicDe novo--Yuen2017 G
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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