Variant #0000004743 (NC_000016.9:g.2122985G>T, TSC2(NM_000548.3):c.2355+1G>T)
Individual ID |
00004743 |
Chromosome |
16 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.2122985G>T |
Reference |
Tyburczy ME1, Jozwiak S2, Malinowska IA1, Chekaluk Y1, Pugh TJ3, Wu CL4, Nussbaum RL5, Seepo S6, Dzik T2, Kotulska K2, Kwiatkowski DJ7.(2015) |
DB-ID |
TSC2_000216 |
Frequency |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
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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