Mutation details:

Protein level identifier (n.a.):

p.Gln311*

cDNA level identifier (n.a.):

c.931C>T

Gene level identifier:

g.1158415C>T

Reference, alternative allele:

G, A

Genomic location hg(19)

6:161990389 (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:

1 homozygous (1 in total).