Mutation details:

cDNA level identifier:

c.(387+1_388-1)_(675+1_676-1)dup

Archive identifier/Other designation:

duplication of exon 2

Gene name:

PINK1

Consequence:

structural variation

Pathogenicity scoring:

probably pathogenic

CADD score:

50

Positive functional evidence:

not available

Diseases reported for this mutation:

PARK-PINK1

Number of all included cases:

1 compound heterozygous (1 in total).

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