Variant #0000005880 (NC_000002.12:g.47378974A>G, EPCAM(NM_002354.2):c.577A>G)

Individual ID 00000849
Chromosome 2
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.47378974A>G
Reference -
DB-ID EPCAM_000007
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


Gene     

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Review status     
EPCAM NM_002354.2 ?/? 6 c.577A>G p.(Ile193Val) Hetero no r.(?) -



Screenings


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Owner     
0000001004 DNA SEQ-NG Hospital Privado Centro Médico de Córdoba Panel breast&ovarian 24 genes (ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, CDC73, DICER1, EPCAM, FANCC, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PMS2, PTEN, RAD51C, RAD51D, STK11, SDHB, SDHD, TP53) 29-jan-2019 Multigenetic panel - 1 Claudia Martin-Hospital de Córdoba