Variant #0000009121 (NC_000002.12:g.47379942A>G, EPCAM(NM_002354.2):c.831A>G)

Individual ID 00001793
Chromosome 2
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.47379942A>G
Reference -
DB-ID EPCAM_000012
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Laura Vargas Roig-IMBECU
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     

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DNA change (cDNA)     

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Review status     
EPCAM NM_002354.2 ?/-? 7 c.831A>G p.(Ile277Met) Hetero BRCA2 r.(?) -



Screenings


AscendingScreening ID     

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Owner     
0000002078 DNA SEQ-NG Biogenotec Panel Multigénico (21 genes) APC, ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN,NF1, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53 10-oct-2019 Multigenetic panel - 4 Laura Vargas Roig-IMBECU