Genomic variant #0000394486

Individual ID 00173767
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.47601829_47617656del
DNA change (hg38) g.47374690_47390518del
Published as -
ISCN -
DB-ID EPCAM_000066
Variant remarks 15828 bp deletion C_AluSq to C_AluSz6
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 +/. 3i_9_ c.426-544_*3904del pathogenic (dominant) r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000174658 DNA SEQ - - EPCAM 1 Mamata Sivagnanam