Genomic variant #0000394537

Individual ID 00173818
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.(?_47596644)_(47639700_47641407)del
DNA change (hg38) g.(?_47369505)_(47412561_47414268)del
Published as -
ISCN -
DB-ID EPCAM_000064
Variant remarks 56290 bp deletion
Reference PubMed: Villacis 2017
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     
MSH2 NM_000251.2 +/. _1_4i c.-33687_-16578del pathogenic (dominant) r.0? p.0?
EPCAM NM_002354.2 +/. _1_9_ c.(_-1)_(*415_?)del pathogenic (dominant) r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000174709 DNA SEQ - - EPCAM 1 Mamata Sivagnanam