Mutation details:

cDNA level identifier (n.a.):

c.(171+1_172-1)_(412+1_413-1)del

Archive identifier/Other designation:

deletion of exon 3

Genomic location hg(19)

not available

Gene name:

Parkin

Consequence:

structural variation includes copy number variants inversions and translocations

Pathogenicity scoring:

Definitely pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

68 homozygous, 2 heterozygous, 76 compound heterozygous, 1 n.a. (147 in total).

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