Mutation details:

Protein level identifier:

p.Gly409Arg

cDNA level identifier:

c.1225G>A

Genome level identifier:

g.15152G>A

Reference, alternative allele:

G, A

Genetic location (hg19):

chr1:20975099

Gene name:

PINK1

Consequence:

missense

Pathogenicity scoring:

probably pathogenic

CADD score:

34

Positive functional evidence:

not available

Diseases reported for this mutation:

PARK-PINK1

Number of all included cases:

2 homozygous (2 in total).

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