Mutation details:

Protein level identifier (NP_115785):

p.Ser284=

cDNA level identifier (NM_032409):

c.852C>T

Gene level identifier:

g.11111C>T

Reference, alternative allele:

C, T

Genomic location hg(19)

1:20971058

Gene name:

PINK1

Consequence:

silent

Pathogenicity scoring:

Possibly pathogenic

CADD score:

16

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 compound heterozygous (1 in total).