Genomic variant #0000179006

Individual ID 00111383
Chromosome 2
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.47605142_47627978del
DNA change (hg38) g.47378003_47400839del
Published as c.555+894_*14194del
ISCN -
DB-ID EPCAM_000002 See all 2 reported entries
Variant remarks linked family, 22.8 Kb deletion; fusion transcript EPCAM/MSH2; MSH2 promoter methylation; haplotype differs from FamHK-A
Reference PubMed: Ligtenberg 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
MSH2 NM_000251.2 +/. _1 c.-25189_-2353del pathogenic NM_002354.2:r.-358_555::r.212_*279 p.?
EPCAM NM_002354.2 +/. 5i_9_ c.555+926_*14226del pathogenic r.-358_555::NM_000251.2:r.212_*279 p.Tyr186Glufs*13



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000111848 DNA;RNA MLPA;PCR;RT-PCR;SEQ - - EPCAM 1 Johan den Dunnen