Variant #0000004715 (NC_000016.9:g.2120530A>G, TSC2(NM_000548.3):c.1790A>G)
Individual ID |
00004715 |
Chromosome |
16 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.2120530A>G |
Reference |
Dunlop EA1, Dodd KM, Land SC, Davies PA, Martins N, Stuart H, McKee S, Kingswood C, Saggar A, Corderio I, Medeira AM, Kingston H, Sampson JR, Davies (2011) |
DB-ID |
TSC2_000188 |
Frequency |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
XY Liu |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Y Yang |
Variant on transcripts
Screenings
|