Genomic variant #0000408386

Individual ID 00183380
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
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-?_*272+?del [5'UTR_EX16del/EPCAM EX3_3'UTRdel]
ISCN -
DB-ID EPCAM_000006 See all 3 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Ian Frayling




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 pathogenic r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000184342 DNA SEQ - screen date 2014-01-01 EPCAM 1 Ian Frayling