Mutation details:

Protein level identifier (NP_115785):

p.Tyr258*

cDNA level identifier (NM_032409):

c.774C>A

Gene level identifier:

g.6536C>A

Reference, alternative allele:

C, A

Genomic location hg(19)

1:20966483

Gene name:

PINK1

Consequence:

nonsense

Pathogenicity scoring:

Probably pathogenic

CADD score:

35

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

4 homozygous (4 in total).