Individual #00002851

Reference -
Ethnic origin -
Remarks -
Panel size 1
Diseases NCL
Owner name Y Yang
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Y Yang


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000002851 ? ? CLN8 1 Y Yang



Variants

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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Owner     

Gene     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
8 Unknown ./. g.1728483G>T Reinardt et al 2010 Clin Genet 77:79-85 CLN8_000011 - Y Yang CLN8 3 NM_018941.3:c.611G>T r.(?) p.(Arg204Leu) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
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