Variant #0000009520 (NC_000002.12:g.47386571_47386572del, EPCAM(NM_002354.2):c.904-1_904del)

Individual ID 00002044
Chromosome 2
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.47386571_47386572del
Reference -
DB-ID EPCAM_000016
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     

AscendingTranscript     

Affects function     

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DNA change (cDNA)     

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RNA change     

Review status     
EPCAM NM_002354.2 +?/+? 9 c.904-1_904del p.? Hetero no r.? -



Screenings


AscendingScreening ID     

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Variants found     

Owner     
0000002331 DNA SEQ-NG Fundación para el Progreso de la Medicina Panel Cancer de Colon (24 genes) APC, ATM, BARD1, BRCA1, BRCA2, BLM, BMPR1A, BUB1B, CDH1, CDKN2A, CHEK2, EPCAM, FLCN, MLH1, MSH2, MSH6, MUTYH, PMS2, PTEN, RAD51, RAD51D, SMAD4, STK11, TP53 27-jun-2022 Multigenetic panel - 1 Claudia Martin-Hospital de Córdoba