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 International |
Created by |
Instituto Nacional del Cancer |
Variant on transcripts
Screenings
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