Mutation details:

Protein level identifier (NP_115785):

p.Gly409Arg

cDNA level identifier (NM_032409):

c.1225G>A

Gene level identifier:

g.15152G>A

Reference, alternative allele:

G, A

Genomic location hg(0)

1:20975099 (not available on ExAC)

Gene name:

PINK1

Consequence:

missense

Pathogenicity scoring:

Not available

CADD score:

31

Positive functional evidence:

not available

Number of all included cases:

2 homozygous (2 in total).