Mutation details:

cDNA level identifier:

c.-24+66C>G

Genome level identifier:

g.7569C>G

Archive identifier/Other designation:

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

Reference, alternative allele:

C, G

Genetic location (hg19):

chr1:8021919 (not available on ExAC)

Gene name:

DJ1

Consequence:

unknown effect

Pathogenicity scoring:

possibly pathogenic

CADD score:

10

Positive functional evidence:

not available

Diseases reported for this mutation:

PARK-DJ1

Number of all included cases:

1 compound heterozygous (1 in total).

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