Variant #0000002815 (NC_000015.9:g.68500638C>A, CLN6(NM_017882.2):c.776G>T)
Individual ID |
00002815 |
Chromosome |
15 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.68500638C>A |
Reference |
Cannelli et al. 2009. Biochem Biophys Res Comm 379:892-7 |
DB-ID |
CLN6_000040 |
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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