Variant #0000002700 (NC_000016.9:g.28500609A>C, CLN3(NM_000086.2):c.222+2T>G)
Individual ID |
00002700 |
Chromosome |
16 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.28500609A>C |
Reference |
Santorelli and Michelakakis pers comm |
DB-ID |
CLN3_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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