Variant #0000009517 (NC_000002.12:g.45004_46866del, EPCAM(NM_002354.2):c.859_*415del)
Individual ID |
00001955 |
Chromosome |
2 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
DNA change (genomic) (Relative to hg38 / GRCh38) |
g.45004_46866del |
Reference |
- |
DB-ID |
EPCAM_000015 |
dbSNP ID |
- |
Variant remarks |
Deletion (Exons 8-9) |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Pablo Kalfayan-Hospital Italiano |
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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