Genomic variant #0000394530

Individual ID 00173811
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.?
DNA change (hg38) g.?
Published as -
ISCN -
DB-ID EPCAM_000000 See all 9 reported entries
Variant remarks deletion includes exon 8, 9 and 3kb
Reference PubMed: Rumilla 2011
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Genomic location of variant could not be determined
Owner Mamata Sivagnanam




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
EPCAM NM_002354.2 +/. 7i_9_ c.? pathogenic (dominant) r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000174702 DNA SEQ - - EPCAM 1 Mamata Sivagnanam