Variant #0000000044 (NC_000017.10:g.42991449C>T, GFAP(NM_002055.4):c.469G>A)
Individual ID |
00000044 |
Chromosome |
17 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.42991449C>T |
Reference |
Pareyson D1, Fancellu R, Mariotti C, Romano S, Salmaggi A, Carella F, Girotti F, Gattellaro G, Carriero MR, Farina L, Ceccherini I, Savoiardo M.(2008) |
DB-ID |
GFAP_000050 |
Frequency |
- |
Average frequency (gnomAD v.2.1.1) |
0.01095 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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