Mutation details:

Protein level identifier (NP_115785):

p.Gln239*

cDNA level identifier (NM_032409):

c.715C>T

Gene level identifier:

g.6477C>T

Reference, alternative allele:

C, T

Genomic location hg(19)

1:20966424 (not available on ExAC)

Gene name:

PINK1

Consequence:

nonsense

Pathogenicity scoring:

Probably pathogenic

CADD score:

39

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

3 compound heterozygous (3 in total).