Individual #00002750

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     
0000002750 ? ? CLN5 1 Y Yang



Variants

1 entry on 1 page. Showing entry 1.
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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     
13 Unknown ./. g.77569254G>A Sleat et al. 2009. Mol Cell Pteomics 8:1708-18;Xin et al 2010 Neurology 74:565-71 CLN5_000010 - Y Yang CLN5 2 NM_006493.2:c.377G>A r.(?) p.(Cys126Tyr) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution
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