Mutation details:

cDNA level identifier:

c.(252+1_253-1)_(322+1_323-1)del

Archive identifier/Other designation:

deletion of exon 5

Gene name:

DJ1

Consequence:

structural variation

Pathogenicity scoring:

probably pathogenic

CADD score:

50

Positive functional evidence:

not available

Diseases reported for this mutation:

PARK-DJ1

Number of all included cases:

3 homozygous (3 in total).

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