Variant #0000006647 (NC_000002.12:deletion of exon 9, EPCAM(NM_002354.2):deletion of exon 9)

Individual ID 00001081
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) deletion of exon 9
Reference -
DB-ID EPCAM_000008
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner Marina Antelo-Hospital Udaondo
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     
EPCAM NM_002354.2 +/+ 9 deletion of exon 9 . Hetero MSH2 . -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000001292 DNA MLPA Hospital de Gastroenterologia " Dr. Carlos Bonorino Udaondo" - 17-may-2018 Specific pathology EPCAM, MLH1, MSH2 2 Marina Antelo-Hospital Udaondo