Mutation details:

Protein level identifier (NP_115785):

p.Val317Ile

cDNA level identifier (NM_032409):

c.949G>A

Gene level identifier:

g.11208G>A

Reference, alternative allele:

G, A

Genomic location hg(19)

1:20971155

Gene name:

PINK1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

33

Phosphorylation activity:

Positive functional evidence:

18307263;

Number of all included cases:

1 compound heterozygous (1 in total).

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