Variant #0000005665 (NC_000002.12:g.47369518C>T, EPCAM(NM_002354.2):c.13C>T)

Individual ID 00000787
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.47369518C>T
Reference -
DB-ID EPCAM_000006
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Lina Nuñez-Hospital Alemán
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     
EPCAM NM_002354.2 +/+ 1 c.13C>T p.(Gln5*) Hetero N/A r.(?) -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000000915 DNA SEQ-NG Domeq&Lafage - 13-dec-2018 Specific pathology panel EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2 13 Lina Nuñez-Hospital Alemán