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Results for "SH3D19"

Variant Events: 8

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
SH3D19     7-0044-003chr4:
152176667-152176667
CTintergenicDe novo--Yuen2017 G
SH3D19     08C78919chr4:
152043356-152043356
CAexonicDe novostopgainNM_001128924
NM_001128923
NM_001243349
NM_001009555
c.G2083T
c.G2191T
c.G2191T
c.G2260T
p.G695X
p.G731X
p.G731X
p.G754X
47.0-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
SH3D19     1-0433-003chr4:
152142037-152142037
TAintronicDe novo--Yuen2017 G
SH3D19     A16chr4:
152187136-152187136
CTintergenicDe novo--Wu2018 G
SH3D19     1-0582-003chr4:
152171664-152171681
AAGAGAGAGAGAGAGAGAAAGAGAGAGAGAGAGAintergenicDe novo--Yuen2017 G
SH3D19     2-1353-003chr4:
152176936-152176936
GAintergenicDe novo--Yuen2017 G
SH3D19     1-0669-003chr4:
152051726-152051726
CTintronicDe novo--Yuen2017 G
SH3D19     2-1426-003chr4:
152148056-152148056
AGintronicDe 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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