Variant #0000002851 (NC_000008.10:g.1728483G>T, CLN8(NM_018941.3):c.611G>T)
Individual ID |
00002851 |
Chromosome |
8 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.1728483G>T |
Reference |
Reinardt et al 2010 Clin Genet 77:79-85 |
DB-ID |
CLN8_000011 |
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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