Variant #0000371734 (NC_000002.11:g.(47630542_47635539)_(47657081_47672686)del, MSH2(NM_000251.2):c.(211+1_212-1)_(1276+1_1277-1)del)

Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.(47630542_47635539)_(47657081_47672686)del
DNA change (hg38) -
Published as -
ISCN -
DB-ID MSH2_001605 See all 6 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_7i c.(211+1_212-1)_(1276+1_1277-1)del r.spl p.(Ala72_Gly426del)