Mutation details:

Protein level identifier (n.a.):

p.Trp453*

cDNA level identifier (n.a.):

c.1358G>A

Gene level identifier:

g.1377633G>A

Archive identifier/Other designation:

1459G>A

Reference, alternative allele:

C, T

Genomic location hg(19)

6:161771171 (not available on ExAC)

Gene name:

Parkin

Consequence:

nonsense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

3 homozygous (3 in total).