Variant #0000010206 (NC_000002.12:g.?, EPCAM(NM_002354.2):Exon 1 alteration)

Individual ID 00003177
Chromosome 2
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.?
Reference -
DB-ID DIS3L2_000004 See all 4 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner Claudia Martin-Hospital de Córdoba
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     
EPCAM NM_002354.2 ?/? 1 Exon 1 alteration p.? Hetero no r.? confirmation of alteration by MLPA methodology is recommended



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000003495 DNA SEQ-NG Hospital Privado Centro Médico de Córdoba GASTRIC/GYNECOLOGIC CANCER PANEL (35 genes) APC, ATM, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CHECK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, NF2, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, SDHB, SDHC, SDHD, SMAD4, STK11, TP53 22-feb-2024 Multigenetic panel - 2 Claudia Martin-Hospital de Córdoba