Mutation details:

cDNA level identifier (NM_032409):

c.(?_-94)_(*820_?)del

Archive identifier/Other designation:

whole gene deletion

Genomic location

not available

Gene name:

PINK1

Consequence:

structural variation

Pathogenicity scoring:

Not available

CADD score:

not available

Positive functional evidence:

not available

Number of all included cases:

1 compound heterozygous (1 in total).