Variant #0000179004 (NC_000002.11:g.(47600710_47600946)_(47710089_?)del, MSH2(NM_000251.2):c.0)

Individual ID 00111381
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.(47600710_47600946)_(47710089_?)del
DNA change (hg38) -
Published as deletion EPCAM exon 3 to MSH2 exon 16 (*272_?)
ISCN -
DB-ID EPCAM_000006 See all 3 reported entries
Variant remarks -
Reference Desiree du Sart
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_16_ c.0 r.0 p.0
EPCAM NM_002354.2 +/. 2i_9_ c.(184+1_185-1)_(*415_?)del r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000111846 DNA MLPA - - EPCAM 1 INSiGHT group