Variant #0000004714 (NC_000016.9:g.2114343G>A, TSC2(NM_000548.3):c.1514G>A)
Individual ID |
00004714 |
Chromosome |
16 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.2114343G>A |
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_000187 |
Frequency |
- |
Average frequency (gnomAD v.2.1.1) |
2.0E-5 View details |
Owner |
Y Yang |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Y Yang |
Variant on transcripts
Screenings
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