Mutation details:

Protein level identifier (n.a.):

p.Cys268*

cDNA level identifier (n.a.):

c.804T>A

Gene level identifier:

g.941933T>A

Archive identifier/Other designation:

905T>A

Reference, alternative allele:

A, T

Genomic location hg(19)

6:162206871

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 compound heterozygous (1 in total).