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Results for "DIS3"

Variant Events: 6

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
DIS3     iHART1889chr13:
73352417-73352417
AATexonicMaternalframeshift insertionNM_001128226
NM_014953
c.397dupA
c.487dupA
p.M133fs
p.M163fs
-3.0E-4Ruzzo2019 G
DIS3     iHART2319chr13:
73351629-73351629
CAexonicMaternalstopgainNM_001128226
NM_014953
c.G493T
c.G583T
p.E165X
p.E195X
45.05.931E-5Ruzzo2019 G
DIS3     74-0355chr13:
73344238-73344238
GAintronicDe novo--Michaelson2012 G
DIS3     iHART1890chr13:
73352417-73352417
AATexonicMaternalframeshift insertionNM_001128226
NM_014953
c.397dupA
c.487dupA
p.M133fs
p.M163fs
-3.0E-4Ruzzo2019 G
DIS3     10C117696chr13:
73346895-73346895
TCexonicDe novononsynonymous SNVNM_001128226
NM_014953
c.A1232G
c.A1322G
p.H411R
p.H441R
19.29-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
DIS3     iHART2978chr13:
73346978-73346978
CGsplicingPaternalsplicing20.9-Ruzzo2019 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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