Individual #00003680

Reference -
Ethnic origin -
Remarks -
Panel size 1
Diseases PD
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     
0000003680 ? ? PINK1 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     
1 Unknown ./. g.20964449G>C Vente EM, 2004;Bonifati V, 2005 PINK1_000073 - Y Yang PINK1 2 NM_032409.2:c.502G>C r.(?) p.(Ala168Pro) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
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