Mutation details:

Protein level identifier (NP_115785):

p.Gln267*

cDNA level identifier (NM_032409):

c.799C>T

Gene level identifier:

g.11058C>T

Reference, alternative allele:

C, T

Genomic location hg(19)

1:20971005 (not available on ExAC)

Gene name:

PINK1

Consequence:

nonsense

Pathogenicity scoring:

Probably pathogenic

CADD score:

38

Phosphorylation activity:

Positive functional evidence:

26282903;

Number of all included cases:

1 homozygous (1 in total).