Variant #0000001152 (NC_000009.11:g.132576387C>T, TOR1A(NM_000113.2):c.863G>A)
Individual ID |
00001152 |
Chromosome |
9 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.132576387C>T |
Reference |
Hettich J1, Ryan SD, de Souza ON, Saraiva Macedo Timmers LF, Tsai S, Atai NA, da Hora CC, Zhang X, Kothary R, Snapp E, Ericsson M, Grundmann K, Breakefield XO, Nery FC.(2014) |
DB-ID |
TOR1A_000006 |
Frequency |
- |
Average frequency (gnomAD v.2.1.1) |
9.0E-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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