Variant #0000368822 (NC_000002.11:g.47606078A>G, EPCAM(NM_002354.2):c.556-14A>G)

Individual ID 00164302
Chromosome 2
Allele Parent #1
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.47606078A>G
DNA change (hg38) g.47378939A>G
Published as -
ISCN -
DB-ID EPCAM_000007 See all 15 reported entries
Variant remarks -
Reference d'Apolito 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 8.0E-5 View details
Owner Mamata Sivagnanam
Database submission license No license selected
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EPCAM NM_002354.2 +/. 5i c.556-14A>G r.spl p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000165169 DNA SEQ - - EPCAM 2 Mamata Sivagnanam