Mutation details:

Protein level identifier (n.a.):

p.Thr240Arg

cDNA level identifier (n.a.):

c.719C>G

Gene level identifier:

g.754455C>G

Reference, alternative allele:

G, C

Genomic location hg(19)

6:162394349 (not available on ExAC)

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:

1 homozygous (1 in total).