Mutation details:

cDNA level identifier:

c.(7+1_8-1)_(171+1_172-1)del

Archive identifier/Other designation:

deletion of exon 2

Gene name:

Parkin

Consequence:

structural variation

Pathogenicity scoring:

definitely pathogenic

CADD score:

not available

Positive functional evidence:

not available

Diseases reported for this mutation:

PARK-Parkin

Number of all included cases:

24 homozygous, 1 heterozygous, 47 compound heterozygous (72 in total).

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