Variant #0000002714 (NC_000016.9:g.28497898C>G, CLN3(NM_000086.2):c.533+1G>C)
Individual ID |
00002714 |
Chromosome |
16 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.28497898C>G |
Reference |
The International Batten Disease Consortium. Cell 82:949-9571995;Munroe et al. Neuropediatrics 28:15-17 1997 |
DB-ID |
CLN3_000019 |
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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