Mutation details:

Protein level identifier (n.a.):

p.Ala107Pro

cDNA level identifier (n.a.):

c.319G>C

Gene level identifier:

g.16670G>C

Reference, alternative allele:

G, C

Genomic location hg(19)

1:8031020 (not available on ExAC)

Gene name:

PARK7

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

28

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 homozygous (1 in total).