Mutation details:

Protein level identifier (NP_115785):

p.Ser73Leu

cDNA level identifier (NM_032409):

c.218C>T

Gene level identifier:

g.312C>T

Reference, alternative allele:

C, T

Genomic location hg(19)

1:20960259

Gene name:

PINK1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

24

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 compound heterozygous (1 in total).