Mutation details:

Protein level identifier (NP_009193):

p.Met26Ile

cDNA level identifier (NM_007262):

c.78G>A

Gene level identifier:

g.8573G>A

Reference, alternative allele:

G, A

Genomic location hg(19)

1:8022923 (not available on ExAC)

Gene name:

DJ1

Consequence:

missense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

25

Phosphorylation activity:

Positive functional evidence:

18181649; 18436956; 23326576; 25058424; 25305074; 27346864; 27556455;

Number of all included cases:

1 homozygous (1 in total).