Variant #0000002808 (NC_000015.9:g.68503596C>A, CLN6(NM_017882.2):c.542+5G>T)
Individual ID |
00002808 |
Chromosome |
15 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.68503596C>A |
Reference |
Siintola et al 2005 Clin Genet 68:167-173 |
DB-ID |
CLN6_000033 |
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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