Mutation details:

Protein level identifier (NP_009193):

p.Leu10Pro

cDNA level identifier (NM_007262):

c.29T>C

Gene level identifier:

g.8524T>C

Reference, alternative allele:

T, C

Genomic location hg(19)

1:8022874 (not available on ExAC)

Gene name:

DJ1

Consequence:

missense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

30

Phosphorylation activity:

Positive functional evidence:

20806408; 25058424; 26739068;

Number of all included cases:

2 homozygous (2 in total).