Mutation details:

Protein level identifier (NP_115785):

p.Cys125Gly

cDNA level identifier (NM_032409):

c.373T>G

Gene level identifier:

g.467T>G

Reference, alternative allele:

T, G

Genomic location hg(19)

1:20960414 (not available on ExAC)

Gene name:

PINK1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

26

Phosphorylation activity:

Positive functional evidence:

23303188;

Number of all included cases:

1 compound heterozygous (1 in total).