Variant #0000000069 (NC_000017.10:g.42992646C>T, GFAP(NM_002055.4):c.209G>A)
Individual ID |
00000069 |
Chromosome |
17 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.42992646C>T |
Reference |
Caroli F1, Biancheri R, Seri M, Rossi A, Pessagno A, Bugiani M, Corsolini F, Savasta S, Romano S, Antonelli C, Romano A, Pareyson D, Gambero P, Uziel G, Ravazzolo R, Ceccherini I, Filocamo M.(2007) |
DB-ID |
GFAP_000074 |
Frequency |
- |
Average frequency (gnomAD v.2.1.1) |
0 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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