Variant #0000002850 (NC_000008.10:g.1728482C>T, CLN8(NM_018941.3):c.610C>T)
Individual ID |
00002850 |
Chromosome |
8 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.1728482C>T |
Reference |
Ranta et al. 2004 Hum Mutat 23:300-305;S. Ball pers comm |
DB-ID |
CLN8_000010 |
Frequency |
- |
Average frequency (gnomAD v.2.1.1) |
3.0E-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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