Mutation details:

Protein level identifier (n.a.):

p.Arg33Gln

cDNA level identifier (n.a.):

c.98G>A

Gene level identifier:

g.284389G>A

Archive identifier/Other designation:

199G>A

Reference, alternative allele:

C, T

Genomic location hg(19)

6:162864415

Gene name:

Parkin

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

4 compound heterozygous (4 in total).