Variant #0000002784 (NC_000015.9:g.68506711C>A, CLN6(NM_017882.2):c.214G>T)
Individual ID |
00002784 |
Chromosome |
15 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.68506711C>A |
Reference |
Wheeler et al. 2002 Am J Hum Genet 70: 537-542;Gao et al. 2002. Am J Hum Genet 70: 324-335 |
DB-ID |
CLN6_000010 |
Frequency |
- |
Average frequency (gnomAD v.2.1.1) |
7.0E-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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