Mutation details:

Protein level identifier:

p.Ala217Asp

cDNA level identifier:

c.650C>A

Genome level identifier:

g.4650C>A

Reference, alternative allele:

C, A

Genetic location (hg19):

chr1:20964597 (not available on ExAC)

Gene name:

PINK1

Consequence:

missense

Pathogenicity scoring:

probably pathogenic

CADD score:

33

Positive functional evidence:

22645651

Diseases reported for this mutation:

PARK-PINK1

Number of all included cases:

6 homozygous (6 in total).

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