Mutation details:

Protein level identifier (NP_009193):

p.Ala107Pro

cDNA level identifier (NM_007262):

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:

DJ1

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).