Mutation details:

Protein level identifier (NP_115785):

p.Val170Gly

cDNA level identifier (NM_032409):

c.509T>G

Gene level identifier:

g.4509T>G

Reference, alternative allele:

T, G

Genomic location hg(19)

1:20964456 (not available on ExAC)

Gene name:

PINK1

Consequence:

missense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

28

Phosphorylation activity:

Positive functional evidence:

19500570; 20508036; 21508222; 22043288;

Number of all included cases:

1 homozygous (1 in total).

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