Mutation details:

Protein level identifier (n.a.):

p.Asn428Lysfs*141

cDNA level identifier (n.a.):

c.1283_1284insA

Gene level identifier:

g.1367682_1367683insA

Reference, alternative allele:

A, AT

Genomic location hg(19)

6:161781121

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).