Variant #0000408386 (NC_000002.11:g.(47600710_47600946)_(47710089_?)del, EPCAM(NM_002354.2):c.(184+1_185-1)_(*415_?)del)

Individual ID 00183380
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
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 (gnomAD v.2.1.1) Variant not found in online data sets
Owner Ian Frayling
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by InSiGHT - John-Paul Plazzer
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

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