Mutation details:

Protein level identifier (n.a.):

p.Val56Glu

cDNA level identifier (n.a.):

c.167T>A

Gene level identifier:

g.284458T>A

Archive identifier/Other designation:

268T>A

Reference, alternative allele:

A, T

Genomic location hg(19)

6:162864346

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:

9 compound heterozygous (9 in total).