Variant #0000001891 (NC_000008.10:g.75276369C>T, GDAP1(NM_018972.2):c.844C>T)
Individual ID |
00001891 |
Chromosome |
8 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.75276369C>T |
Reference |
Nelis E1, Erdem S, Van Den Bergh PY, Belpaire-Dethiou MC, Ceuterick C, Van Gerwen V, Cuesta A, Pedrola L, Palau F, Gabre?ls-Festen AA, Verellen C, Tan E, Demirci M, Van Broeckhoven C, De Jonghe P, Topaloglu H, Timmerman V.(2002) |
DB-ID |
GDAP1_000005 |
Frequency |
- |
Average frequency (gnomAD v.2.1.1) |
1.0E-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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