Mutation details:

Protein level identifier (n.a.):

p.Glu64Asp

cDNA level identifier (n.a.):

c.192G>C

Gene level identifier:

g.11135G>C

Reference, alternative allele:

G, C

Genomic location hg(19)

1:8025485 (not available on ExAC)

Gene name:

PARK7

Consequence:

missense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

22

Phosphorylation activity:

Positive functional evidence:

23183826; 26836693; 27048419; 27346864;

Number of all included cases:

1 homozygous (1 in total).