Variant #0000010281 (NC_000009.12:g.95469907A>C, PTCH1(NM_000264.4):c.1753T>G)
Individual ID |
00003256 |
Chromosome |
9 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Effect unknown |
DNA change (genomic) (Relative to hg38 / GRCh38) |
g.95469907A>C |
Reference |
- |
DB-ID |
PTCH1_000008 |
dbSNP ID |
- |
Variant remarks |
- |
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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