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Results for "MSH2"

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
MSH2     AU4310301chr2:
47658040-47658040
AGintronicDe novo--Yuen2017 G
MSH2     1-0555-003chr2:
47702828-47702828
CTintronicDe novo--Yuen2017 G
MSH2     AU070007chr2:
47643526-47643526
GAexonicDe novostopgainNM_000251
NM_001258281
c.G1034A
c.G836A
p.W345X
p.W279X
38.0-Yuen2017 G
MSH2     3-0111-000chr2:
47692352-47692352
GAintronicDe novo--Yuen2016 G
MSH2     2-1605-003chr2:
47741485-47741485
GAintergenicDe novo--Yuen2017 G
MSH2     327-04-101036chr2:
47693810-47693819
CAAACAGATTCexonicDe novononframeshift deletionNM_000251
NM_001258281
c.1525_1533del
c.1327_1335del
p.509_511del
p.443_445del
--Satterstrom2020 E
MSH2     AU186Achr2:
47672716-47672716
TAexonicDe novononsynonymous SNVNM_000251
NM_001258281
c.T1306A
c.T1108A
p.F436I
p.F370I
22.9-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
MSH2     G01-GEA-317-HIchr2:
47693770-47693770
CGintronicDe novo--Satterstrom2020 E
MSH2     5F620chr2:
47693956-47693956
GAintronicDe novo--Satterstrom2020 E
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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