Mutation details:

Protein level identifier (n.a.):

p.Arg156Serfs*29

cDNA level identifier (n.a.):

c.465_466delAA

Gene level identifier:

g.526572_526573delAA

Reference, alternative allele:

CTT, C

Genomic location hg(19)

6:162622230

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:

1 compound heterozygous (1 in total).