Variant #0000371179 (NC_000002.11:g.47628578_47638433del, MSH2(NM_000251.2):c.-1753_645+922del)

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.47628578_47638433del
DNA change (hg38) g.47401439_47411294del
Published as -
ISCN -
DB-ID MSH2_001625 See all 3 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 (large NGS studies) 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 +/+ 1_3i c.-1753_645+922del r.spl p.?