Variant #0000001892 (NC_000008.10:g.75274214G>A, GDAP1(NM_018972.2):c.579+1G>A)
Individual ID |
00001892 |
Chromosome |
8 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.75274214G>A |
Reference |
Senderek J1, Bergmann C, Ramaekers VT, Nelis E, Bernert G, Makowski A, Züchner S, De Jonghe P, Rudnik-Sch?neborn S, Zerres K, Schr?der JM.(2003) |
DB-ID |
GDAP1_000014 |
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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