Variant #0000002790 (NC_000015.9:g.68504192G>A, CLN6(NM_017882.2):c.307C>T)
Individual ID |
00002790 |
Chromosome |
15 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.68504192G>A |
Reference |
Cismondi et al 2008 Hum Genet 124: 324;C. Armour pers comm |
DB-ID |
CLN6_000016 |
Frequency |
- |
Average frequency (gnomAD v.2.1.1) |
4.0E-5 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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