Full data view for gene PINK1

Information The variants shown are described using the NM_032409.2 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Template     

Technique     

Disease     

Reference     

Ethnic origin     

Remarks     

Panel size     

Owner     
./. 4 c.926G>A r.(?) p.(Gly309Asp) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.20971132G>A Vente EM, 2004 PINK1_000129 - ? ? PD - - - 1 Y Yang
./. 4 c.926G>A r.(?) p.(Gly309Asp) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.20971132G>A Chien WL1, Lee TR, Hung SY, Kang KH, Lee MJ, Fu WM.(2011) PINK1_000129 - ? ? PD Chien WL1, Lee TR, Hung SY, Kang KH, Lee MJ, Fu WM.(2011) - - 1 Y Yang
./. 4 c.926G>A r.(?) p.(Gly309Asp) - - Unknown g.20971132G>A Azkona G et al. (2016) PINK1_000129 - ? ? PD Azkona G et al. (2016) - - 1 XY Liu
Legend   How to query