Mutation details:

Protein level identifier (n.a.):

p.Cys441Arg

cDNA level identifier (n.a.):

c.1321T>C

Gene level identifier:

g.1377596T>C

Reference, alternative allele:

A, G

Genomic location hg(19)

6:161771208

Gene name:

Parkin

Consequence:

missense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

11 compound heterozygous (11 in total).