Variant #0000000065 (NC_000002.12:g.47403333G>T, NM_000251.2:c.142G>T (MSH2))

Chromosome 2
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.47403333G>T
Published as -
Reference N.A. Abdul Murad et al. (2012), dbSNP, ClinVar
DB-ID MSH2_000003
dbSNP ID rs63750615
Frequency 76
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner MyHVP
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by MyHVP
Date created 2017-11-21 05:11:39 +08:00 (CST)
Date last edited 2021-09-08 11:58:18 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
MSH2 NM_000251.2 +/. 1 c.142G>T - r.(?) p.(Glu48*) - ClinVar