Genomic variant #0000394488

Individual ID 00173769
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.47602967_47614626del
DNA change (hg38) g.47375828_47387488del
Published as -
ISCN -
DB-ID EPCAM_000067 See all 2 reported entries
Variant remarks 11660 bp deletion C_AluSg4 to C_AluSg4
Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message.
Reference PubMed: Kuiper 2011
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 Mamata Sivagnanam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EPCAM NM_002354.2 +/. 4i_9_ c.491+529_*874del r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000174660 DNA SEQ - - EPCAM 1 Mamata Sivagnanam