Full data view for gene PINK1

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

2 entries on 1 page. Showing entries 1 - 2.
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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     
./. 2 c.625C>G r.(?) p.(Pro209Ala) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.20964572C>G Lee MJ, 2009 PINK1_000119 - ? ? PD - - - 1 Y Yang
./. 2 c.625C>G r.(?) p.(Pro209Ala) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.20964572C>G Chien WL1, Lee TR, Hung SY, Kang KH, Wu RM, Lee MJ, Fu WM.(2013) PINK1_000119 - ? ? PD Chien WL1, Lee TR, Hung SY, Kang KH, Wu RM, Lee MJ, Fu WM.(2013) - - 1 Y Yang
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