Variant #0000368798 (NC_000002.11:g.47602439G>A, EPCAM(NM_002354.2):c.491+1G>A)

Individual ID 00164314
Chromosome 2
Allele Parent #2
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.47602439G>A
DNA change (hg38) g.47375300G>A
Published as -
ISCN -
DB-ID EPCAM_000003 See all 13 reported entries
Variant remarks -
Reference Sivagnanam, submitted
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 5.0E-5 View details
Owner Mamata Sivagnanam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EPCAM NM_002354.2 +/. 4i c.491+1G>A r.426_491del p.Trp143_Thr164del



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000165181 DNA SEQ - - EPCAM 2 Mamata Sivagnanam