Mutation details:

Protein level identifier (n.a.):

p.Cys332Arg

cDNA level identifier (n.a.):

c.994T>C

Gene level identifier:

g.1178829T>C

Reference, alternative allele:

A, G

Genomic location hg(19)

6:161969975 (not available on ExAC)

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).