Variant #0000009149 (NC_000002.12:g.47379805G>A, EPCAM(NM_002354.2):c.694G>A)

Individual ID 00001812
Chromosome 2
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.47379805G>A
Reference -
DB-ID EPCAM_000013
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
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
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Variant on transcripts


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EPCAM NM_002354.2 ?/? 7 c.694G>A p.(Asp232Asn) Hetero no r.(?) -



Screenings


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Owner     
0000002097 DNA SEQ-NG Hospital Privado Centro Médico de Córdoba Panel Cancer mama y Ovario (29 genes) ATM, BARD1, BRCA1, BRCA2, BRIP1,CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, STK11, SDHB, SDHD, TP55 20-aug-2021 Multigenetic panel - 2 Claudia Martin-Hospital de Córdoba