Genomic variant #0000394489

Individual ID 00173770
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.47603644_47627473del
DNA change (hg38) g.47376505_47400335del
Published as -
ISCN -
DB-ID EPCAM_000068 See all 2 reported entries
Variant remarks 23830 bp deletion C_AluSp to C_AluSx1
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




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
EPCAM NM_002354.2 +/. 4i_9_ c.492-509_*13721del pathogenic (dominant) r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000174661 DNA SEQ - - EPCAM 1 Mamata Sivagnanam