Variant #0000002795 (NC_000015.9:g.68504103_68504104delAG, CLN6(NM_017882.2):c.395_396delCT)
Individual ID |
00002795 |
Chromosome |
15 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.68504103_68504104delAG |
Reference |
Wheeler et al. 2002 Am J Hum Genet 70: 537-542;Cannelli et al. 2009. Biochem Biophys Res Comm 379:892-7;Al-Muhaizea et al 2009 Pediatr Neurol 41: 74-76 |
DB-ID |
CLN6_000020 |
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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