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Results for "RUNX3"

Variant Events: 9

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
RUNX3     12600.p1chr1:
25316918-25316918
CAintergenicDe novo--Iossifov2014 E
Kosmicki2017 E
RUNX3     AU1909304chr1:
25291292-25291292
AGUTR5De novo--Yuen2017 G
RUNX3     2-1451-004chr1:
25226417-25226420
TACGTUTR3De novo--Yuen2017 G
RUNX3     2-0142-003chr1:
25279027-25279027
GCintronicDe novo--Yuen2017 G
RUNX3     1-0479-006chr1:
25277127-25277127
GAintronicDe novo--Yuen2017 G
RUNX3     1-0459-004chr1:
25254965-25254965
CCTTTGintronicDe novo--Yuen2017 G
RUNX3     12648.p1chr1:
25318673-25318673
GTintergenicDe novo--Krumm2015 E
RUNX3     1-0459-003chr1:
25254965-25254965
CCTTTGintronicDe novo--Yuen2017 G
RUNX3     AU3637301chr1:
25262066-25262066
CTintronicDe 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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