Variant #0000002729 (NC_000002.12:g.47387185C>G, EPCAM(NM_002354.2):c.*572C>G)

Individual ID 00000325
Chromosome 2
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.47387185C>G
Reference -
DB-ID EPCAM_000005
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Pablo Kalfayan-Hospital Italiano
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     

Exon     

DNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     
EPCAM NM_002354.2 -/- 3'UTR c.*572C>G p.(=) Hetero MLH1 r.(=) RECLASSIFIED JULY 2022



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000000373 DNA SEQ-NG Genia - 27-nov-2017 - EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2 21 Pablo Kalfayan-Hospital Italiano