Variant #0000371396 (NC_000002.11:g.47635539G>A, MSH2(NM_000251.2):c.212-1G>A)

Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method InSiGHT
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.47635539G>A
DNA change (hg38) g.47408400G>A
Published as -
ISCN -
DB-ID MSH2_001110 See all 10 reported entries
Variant remarks Insight class: 5
Reference InSiGHT
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner InSiGHT - John-Paul Plazzer
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MSH2 NM_000251.2 +/+ 1i c.212-1G>A r.spl p.?