Mutation details:

Protein level identifier (n.a.):

p.Thr175Profs*2

Genomic location hg(19)

not available

Gene name:

Parkin

Consequence:

frameshift

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).