Mutation details:

Protein level identifier (NP_115785):

p.Leu31*

cDNA level identifier (NM_032409):

c.92T>A

Gene level identifier:

g.186T>A

Reference, alternative allele:

T, A

Genomic location hg(19)

1:20960133 (not available on ExAC)

Gene name:

PINK1

Consequence:

nonsense

Pathogenicity scoring:

Probably pathogenic

CADD score:

34

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 homozygous (2 in total).