Variant #0000179012 (NC_000002.11:g.(47612350_47613710)_(47643569_47656880)del, MSH2(NM_000251.2):c.(?_-1)_(1076+1_1077-1)del)

Individual ID 00111389
Chromosome 2
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.(47612350_47613710)_(47643569_47656880)del
DNA change (hg38) -
Published as deletion EPCAM exon 9 to MSH2 exon 6
ISCN -
DB-ID EPCAM_000005 See all 2 reported entries
Variant remarks -
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 group
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MSH2 NM_000251.2 ?/. _1_6i c.(?_-1)_(1076+1_1077-1)del r.? p.?
EPCAM NM_002354.2 +/. 8i_9_ c.(903+1_904-1)_(*1_?)del r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000111854 DNA MLPA - - EPCAM 1 INSiGHT group