Mutation details:

Protein level identifier (n.a.):

p.Gln178*

cDNA level identifier (n.a.):

c.532C>T

Gene level identifier:

g.526639C>T

Reference, alternative allele:

G, A

Genomic location hg(19)

6:162622165 (not available on ExAC)

Gene name:

Parkin

Consequence:

nonsense

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 homozygous (1 in total).