Variant #0000130260 (NC_000002.11:g.47606078A>G, EPCAM(NM_002354.2):c.556-14A>G)

Individual ID 00081062
Chromosome 2
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
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 PubMed: Trujillano 2017
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 Daniel Trujillano
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.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000081174 DNA SEQ;SEQ-NG - - EPCAM 1 Daniel Trujillano