Variant #0000009147 (NC_000017.11:g.31265305G>A, NF1(NM_000267.3):c.4738G>A)
Individual ID |
00001811 |
Chromosome |
17 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Effect unknown |
DNA change (genomic) (Relative to hg38 / GRCh38) |
g.31265305G>A |
Reference |
- |
DB-ID |
NF1_000013 |
dbSNP ID |
- |
Variant remarks |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Claudia Martin-Hospital de Córdoba |
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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