Variant #0000002847 (NC_000008.10:g.1719693A>G, CLN8(NM_018941.3):c.473A>G)
Individual ID |
00002847 |
Chromosome |
8 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.1719693A>G |
Reference |
Cannelli et al. 2006. Neurogenetics 7:111-7.;Kousi et al 2009. Brain. 132:810-810;Lehesjoki pers comm |
DB-ID |
CLN8_000007 |
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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