Variant #0000370873 (NC_000002.11:g.47630334G>A, MSH2(NM_000251.2):c.4G>A)

Chromosome 2
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
Classification method InSiGHT
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.47630334G>A
DNA change (hg38) g.47403195G>A
Published as -
ISCN -
DB-ID MSH2_000276 See all 25 reported entries
Variant remarks Insight class: 2
Reference InSiGHT
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00016 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.4G>A r.4g>a p.Ala2Thr