Genomic variant #0000408388

Individual ID 00183382
Chromosome 2
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.(47600710_47600946)_(47710089_?)del
DNA change (hg38) -
Published as c.185-?_945+?del
ISCN -
DB-ID EPCAM_000006 See all 3 reported entries
Variant remarks -
Reference PubMed: Lagerstedt-RobinsonĀ et al. 2016
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 Kristina Lagerstedt Robinson




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
EPCAM NM_002354.2 ?/. 2i_9_ c.(184+1_185-1)_(*415_?)del VUS r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000184344 DNA SEQ - - EPCAM 1 Kristina Lagerstedt Robinson