Mutation details:

Protein level identifier (NP_115785):

p.Trp437*

cDNA level identifier (NM_032409):

c.1311G>A

Gene level identifier:

g.15600G>A

Reference, alternative allele:

G, A

Genomic location hg(19)

1:20975547

Gene name:

PINK1

Consequence:

nonsense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

43

Phosphorylation activity:

Positive functional evidence:

16207731; 17579517; 18473170; 19166511; 20049710; 20057503; 20164189; 23165879; 23772688; 24652937;

Number of all included cases:

9 homozygous (9 in total).