Variant #0000002816 (NC_000015.9:g.68500618_68500620delAGG, CLN6(NM_017882.2):c.794_796delCCT)
Individual ID |
00002816 |
Chromosome |
15 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.68500618_68500620delAGG |
Reference |
Sharp et al 2003 Hum Mut 22: 35-42;Santorelli pers comm.;Kousi et al 2009. Brain 132:810-9;Al-Muhaizea et al 2009 Pediatr Neruol 41: 74-76 |
DB-ID |
CLN6_000041 |
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
|
|