Variant #0000370655 (NC_000002.11:g.47630353C>T, MSH2(NM_000251.2):c.23C>T)

Chromosome 2
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
Classification method InSiGHT
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.47630353C>T
DNA change (hg38) g.47403214C>T
Published as -
ISCN -
DB-ID MSH2_000055 See all 14 reported entries
Variant remarks Insight class: 1
Reference InSiGHT
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00298 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.23C>T r.23c>u p.Thr8Met