Mutation details:

Protein level identifier (n.a.):

p.Cys446Phe

cDNA level identifier (n.a.):

c.1337G>T

Gene level identifier:

g.1377612G>T

Reference, alternative allele:

C, A

Genomic location hg(19)

6:161771192 (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).