Variant #0000000067 (NC_000002.12:g.47410128T>C, NM_000251.2:c.401T>C (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.47410128T>C
Published as -
Reference N.A. Abdul Murad et al. (2012)
DB-ID MSH2_000005
dbSNP ID rs770368711
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 05:34:58 +08:00 (CST)
Date last edited 2021-09-07 14:45:36 +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 ?/. 3 c.401T>C - r.(?) p.(Ile134Thr) - -