Variant #0000370649 (NC_000002.11:g.47630424_47630433del, MSH2(NM_000251.2):c.94_103del)

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.47630424_47630433del
DNA change (hg38) g.47403285_47403294del
Published as -
ISCN -
DB-ID MSH2_000050 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 (gnomAD v.2.1.1) Variant not found in online data sets
Owner InSiGHT - John-Paul Plazzer
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MSH2 NM_000251.2 +/+ 1 c.94_103del r.(?) p.(Thr32Alafs*29)