Mutation details:

Protein level identifier (n.a.):

p.Cys154Phefs*23

cDNA level identifier (n.a.):

c.461delG

Gene level identifier:

g.526568delG

Archive identifier/Other designation:

p.C154_X176

Reference, alternative allele:

AC, A

Genomic location hg(19)

6:162622235 (not available on ExAC)

Gene name:

Parkin

Consequence:

frameshift

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).