Mutation details:

cDNA level identifier (n.a.):

c.(412+1_413-1)_(534+1_535-1)dup

Archive identifier/Other designation:

duplication of exon 4

Genomic location hg(19)

not available

Gene name:

Parkin

Consequence:

structural variation includes copy number variants inversions and translocations

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 homozygous, 1 heterozygous, 3 compound heterozygous (5 in total).

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