Variant #0000007311 (NC_000016.10:g.2088268T>C, TSC2(NM_000548.3):c.5202T>C)
Individual ID |
00001283 |
Chromosome |
16 |
Allele |
Unknown |
Affects function (as reported) |
Does not affect function |
Affects function (by curator) |
Does not affect function |
DNA change (genomic) (Relative to hg38 / GRCh38) |
g.2088268T>C |
Reference |
- |
DB-ID |
TSC2_000001 |
dbSNP ID |
- |
Variant remarks |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Silvina Sisterna-Hospital de Comunidad |
Database submission license |
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International |
Created by |
Instituto Nacional del Cancer |
Variant on transcripts
Screenings
|
|