Variant #0000002845 (NC_000008.10:g.1719400_1719402delGAA, CLN8(NM_018941.3):c.180_182delGAA)
Individual ID |
00002845 |
Chromosome |
8 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.1719400_1719402delGAA |
Reference |
Vantaggiato et al. 2009. Hum Mutat 7:1104-16 |
DB-ID |
CLN8_000005 |
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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