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Results for "MSH6"

Variant Events: 5

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
MSH6     13890.p1chr2:
48026852-48026852
GAexonicDe novononsynonymous SNVNM_001281492
NM_001281493
NM_000179
NM_001281494
c.G1340A
c.G824A
c.G1730A
c.G824A
p.R447H
p.R275H
p.R577H
p.R275H
22.44.137E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
MSH6     AU3632301chr2:
48017453-48017453
TCintronicDe novo--Yuen2017 G
MSH6     12369.p1chr2:
48030838-48030838
ATintronicMosaic-0.4043Dou2017 E
MSH6     AU062204chr2:
48029232-48029232
AGintronicDe novo--Yuen2017 G
MSH6     5-0004-003chr2:
48012649-48012656
GCCCGGCCGintronicDe 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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