Mutation details:

cDNA level identifier (NM_007262):

c.-24+66C>G

Gene level identifier:

g.7569C>G

Archive identifier/Other designation:

g.159C>G; IVS1+124C>G

Reference, alternative allele:

C, G

Genomic location hg(19)

1:8021919 (not available on ExAC)

Gene name:

DJ1

Consequence:

unknown effect

Pathogenicity scoring:

Possibly pathogenic

CADD score:

10

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 compound heterozygous (1 in total).