Genomic variant #0000179005

Individual ID 00111382
Chromosome 2
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.47602439G>A
DNA change (hg38) g.47375300G>A
Published as IVS4+1G>A
ISCN -
DB-ID EPCAM_000003 See all 10 reported entries
Variant remarks SNP homozygosity mapping; RNA duodenal; IHC intestinal tissue EPCAM decreased
Reference PubMed: Sivagnanam 2008
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
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     
EPCAM NM_002354.2 +/. 4i c.491+1G>A pathogenic r.426_491del p.Trp143_Thr164del



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000111847 DNA;RNA arraySNP;RT-PCR;SEQ - - EPCAM 1 Johan den Dunnen