Mutation details:

Protein level identifier (NP_115785):

p.Pro416Arg

cDNA level identifier (NM_032409):

c.1247C>G

Gene level identifier:

g.15174C>G

Reference, alternative allele:

C, G

Genomic location hg(0)

1:20975121 (not available on ExAC)

Gene name:

PINK1

Consequence:

missense

Pathogenicity scoring:

Not available

CADD score:

29

Positive functional evidence:

not available

Number of all included cases:

2 homozygous (2 in total).