Variant #0000002847 (NC_000008.10:g.1719693A>G, CLN8(NM_018941.3):c.473A>G)

Individual ID 00002847
Chromosome 8
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.1719693A>G
Reference Cannelli et al. 2006. Neurogenetics 7:111-7.;Kousi et al 2009. Brain. 132:810-810;Lehesjoki pers comm
DB-ID CLN8_000007
Frequency -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner Y Yang
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Y Yang
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
CLN8 NM_018941.3 ./. 2 c.473A>G r.(?) p.(Tyr158Cys) 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     
0000002847 ? ? CLN8 1 Y Yang