Variant #0000000037 (NC_000017.10:g.42990713A>G, GFAP(NM_002055.4):c.704T>C)
Individual ID |
00000037 |
Chromosome |
17 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.42990713A>G |
Reference |
Li R1, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, Cree B, Ruyle SZ, Banwell B, D'Hooghe M, Siebert JR, Rolf CM, Cox H, Reddy A, GutiƩrrez-Solana LG, Collins A, Weller RO, Messing A, van der Knaap MS, Brenner M.(2005) |
DB-ID |
GFAP_000043 |
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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