Variant #0000002848 (NC_000008.10:g.1725850_1728462del, CLN8(NM_018941.3):c.544-2566_590del)
Individual ID |
00002848 |
Chromosome |
8 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.1725850_1728462del |
Reference |
Reinardt et al 2010 Clin Genet 77:79-85 |
DB-ID |
CLN8_000008 |
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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