Mutation details:

Protein level identifier (NP_115785):

p.Leu249Val

cDNA level identifier (NM_032409):

c.745T>G

Gene level identifier:

g.6507T>G

Reference, alternative allele:

T, G

Genomic location hg(19)

1:20966454

Gene name:

PINK1

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

23

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 compound heterozygous (1 in total).