Mutation details:

cDNA level identifier (NM_007262):

c.410-1G>C

Gene level identifier:

g.30603G>C

Archive identifier/Other designation:

IVS6-1G>C

Reference, alternative allele:

G, C

Genomic location hg(19)

1:8044953 (not available on ExAC)

Gene name:

DJ1

Consequence:

splice site 1 3bp

Pathogenicity scoring:

Probably pathogenic

CADD score:

18

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 compound heterozygous (1 in total).