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Results for "MSH5"

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
MSH5     SP0054615chr6:
31711954-31711954
GTexonicDe novosynonymous SNVNM_025259c.G576Tp.L192L--Fu2022 E
Trost2022 G
Zhou2022 GE
MSH5     mAGRE4589chr6:
31728595-31728596
CTCexonicMaternalframeshift deletionNM_002441
NM_025259
NM_172165
NM_172166
c.1942delT
c.1993delT
c.1942delT
c.1942delT
p.F648fs
p.F665fs
p.F648fs
p.F648fs
-8.976E-6Cirnigliaro2023 G
MSH5     mAGRE1915chr6:
31710948-31710948
GTsplicingPaternalsplicing21.38.591E-6Cirnigliaro2023 G
MSH5     12036-1chr6:
31727229-31727229
CTexonicDe novononsynonymous SNVNM_002441
NM_025259
NM_172165
NM_172166
c.C1435T
c.C1486T
c.C1435T
c.C1435T
p.R479C
p.R496C
p.R479C
p.R479C
26.68.64E-6Fu2022 E
MSH5     SP0134976chr6:
31712327-31712327
CGexonicDe novononsynonymous SNVNM_002441
NM_025259
NM_172165
NM_172166
c.C652G
c.C703G
c.C652G
c.C652G
p.H218D
p.H235D
p.H218D
p.H218D
4.048-Fu2022 E
Trost2022 G
Zhou2022 GE
MSH5     iHART1915chr6:
31710948-31710948
GTsplicingPaternalsplicing21.38.591E-6Ruzzo2019 G
MSH5     09C82619chr6:
31726346-31726346
GAexonicDe novononsynonymous SNVNM_002441
NM_025259
NM_172165
NM_172166
c.G1165A
c.G1216A
c.G1165A
c.G1165A
p.A389T
p.A406T
p.A389T
p.A389T
15.15-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
MSH5     111299chr6:
31726545-31726545
AGexonicnonsynonymous SNVNM_002441
NM_025259
NM_172165
NM_172166
c.A1219G
c.A1270G
c.A1219G
c.A1219G
p.K407E
p.K424E
p.K407E
p.K407E
31.0-Woodbury-Smith2022 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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