Mutation details:

Protein level identifier (n.a.):

p.Ala291Leufs*6

cDNA level identifier (n.a.):

c.871delG

Gene level identifier:

g.942000delG

Archive identifier/Other designation:

972delG

Reference, alternative allele:

CC, C

Genomic location hg(19)

6:162206804 (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:

3 homozygous (3 in total).