Variant #0000001873 (NC_000002.12:g.47385085C>T, EPCAM(NM_002354.2):c.859-81C>T)

Individual ID 00000153
Chromosome 2
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.47385085C>T
Reference -
DB-ID EPCAM_000002 See all 2 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Maria Laura Gonzalez-Hospital Italiano
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     
EPCAM NM_002354.2 -?/- 7i c.859-81C>T p.(=) Hetero no r.(=) RISK FACTOR



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000000249 DNA SEQ-NG Genia - 30-jun-2017 - EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2 37 Maria Laura Gonzalez-Hospital Italiano