Mutation details:

Protein level identifier (n.a.):

p.Pro202Leu

cDNA level identifier (n.a.):

c.605C>T

Gene level identifier:

g.673668C>T

Reference, alternative allele:

G, A

Genomic location hg(19)

6:162475136 (not available on ExAC)

Gene name:

Parkin

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 compound heterozygous (1 in total).