Variant #0000370650 (NC_000002.11:g.47630427A>G, MSH2(NM_000251.2):c.97A>G)

Chromosome 2
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.47630427A>G
DNA change (hg38) g.47403288A>G
Published as -
ISCN -
DB-ID MSH2_000051 See all 8 reported entries
Variant remarks Insight class: 3
Reference InSiGHT
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner InSiGHT - John-Paul Plazzer
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MSH2 NM_000251.2 ?/? 1 c.97A>G r.97a>g p.Thr33Ala