Variant #0000009518 (NC_000004.12:g.50745_74149dup, PDGFRA(NM_006206.5):c.1789_6378dup)
Individual ID |
00001970 |
Chromosome |
4 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Effect unknown |
DNA change (genomic) (Relative to hg38 / GRCh38) |
g.50745_74149dup |
Reference |
- |
DB-ID |
PDGFRA_000009 |
dbSNP ID |
- |
Variant remarks |
Gain (Exons 12-23). Copy number = 3 |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Maria Laura Gonzalez-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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