Variant #0000008549 (NC_000002.12:g.47373967T>C, EPCAM(NM_002354.2):c.344T>C)

Individual ID 00001505
Chromosome 2
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.47373967T>C
Reference -
DB-ID EPCAM_000001 See all 23 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Silvina Sisterna-Hospital de Comunidad
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     

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DNA change (cDNA)     

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RNA change     

Review status     
EPCAM NM_002354.2 ./- 3 c.344T>C p.(Met115Thr) Hetero BRCA2 r.(?) -



Screenings


AscendingScreening ID     

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Variants found     

Owner     
0000001774 DNA CNV;SEQ-NG IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53) 13-may-2020 Multigenetic panel - 28 Silvina Sisterna-Hospital de Comunidad