Variant #0000002852 (NC_000008.10:g.1728581G>A, CLN8(NM_018941.3):c.709G>A)

Individual ID 00002852
Chromosome 8
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.1728581G>A
Reference Siintola pers comm;Kousi et al 2009. Brain. 132:810-810;Reinardt et al 2010 Clin Genet 77:79-85
DB-ID CLN8_000012
Frequency -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
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 ./. 3 c.709G>A r.(?) p.(Gly237Arg) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000002852 ? ? CLN8 1 Y Yang