Variant #0000000062 (NC_000002.12:g.47475270G>C, NM_000251.2:c.2005G>C (MSH2))

Individual ID 00000005
Chromosome 2
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.47475270G>C
Published as -
Reference MN Zahary et al.(2012)dbSNP
DB-ID MSH2_000001
dbSNP ID rs63751668
Frequency 34
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 05:02:26 +08:00 (CST)
Date last edited 2021-09-08 11:30:34 +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 ?/. 12 c.2005G>C - r.(?) p.(Gly669Arg) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000005 DNA DHPLC MSH2 1 MyHVP