Mutation details:

Protein level identifier (NP_115785):

p.Ala168Pro

cDNA level identifier (NM_032409):

c.502G>C

Gene level identifier:

g.4502G>C

Reference, alternative allele:

G, C

Genomic location hg(19)

1:20964449

Gene name:

PINK1

Consequence:

missense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

30

Phosphorylation activity:

Positive functional evidence:

20126261; 22910362; 23459931; 24189060;

Number of all included cases:

3 homozygous (3 in total).

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