Mutation details:

Protein level identifier (n.a.):

p.Asp18Valfs*26

cDNA level identifier (n.a.):

c.53delA

Gene level identifier:

g.284344delA

Archive identifier/Other designation:

c.154delA

Reference, alternative allele:

AT, A

Genomic location hg(19)

6:162864459 (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:

2 compound heterozygous (2 in total).