Mutation details:

cDNA level identifier (n.a.):

c.(871+1_872-1)_(933+1_934-1)del

Archive identifier/Other designation:

deletion of exon 8

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:

3 homozygous, 8 compound heterozygous (11 in total).

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