Variant #0000426118 (NC_000002.11:g.(?_47630330)_(47639700_47641407)del, MSH2(NM_000251.2):c.(?_-1)_(792+1_793-1)del)

Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.(?_47630330)_(47639700_47641407)del
DNA change (hg38) -
Published as -
ISCN -
DB-ID MSH2_000008
Variant remarks ICCON data, Westmead, NSW
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
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-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by InSiGHT - John-Paul Plazzer
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MSH2 NM_000251.2 +/. _1_4i c.(?_-1)_(792+1_793-1)del r.0? p.0?