Mutation details:

Protein level identifier (n.a.):

p.Pro281Arg

cDNA level identifier (n.a.):

c.842C>G

Gene level identifier:

g.941971C>G

Archive identifier/Other designation:

p.P253R

Reference, alternative allele:

G, C

Genomic location hg(19)

6:162206833

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:

1 compound heterozygous (1 in total).