Variant #0000002848 (NC_000008.10:g.1725850_1728462del, CLN8(NM_018941.3):c.544-2566_590del)

Individual ID 00002848
Chromosome 8
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.1725850_1728462del
Reference Reinardt et al 2010 Clin Genet 77:79-85
DB-ID CLN8_000008
Frequency -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Y Yang
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Y Yang
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
CLN8 NM_018941.3 ./. 2i-3 c.544-2566_590del r.? p.? VariO:0141 DNA deletion -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000002848 ? ? CLN8 1 Y Yang