Mutation details:

cDNA level identifier (n.a.):

c.(252+1_253-1)_(322+1_323-1)del

Archive identifier/Other designation:

deletion of exon 5

Genomic location hg(19)

not available

Gene name:

PARK7

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:

3 homozygous (3 in total).

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