Mutation details:

Protein level identifier (NP_115785):

p.Cys92Phe

cDNA level identifier (NM_032409):

c.275G>T

Gene level identifier:

g.369G>T

Reference, alternative allele:

G, T

Genomic location hg(19)

1:20960316 (not available on ExAC)

Gene name:

PINK1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

17

Phosphorylation activity:

Positive functional evidence:

21138942;

Number of all included cases:

1 compound heterozygous (1 in total).