Mutation details:

Protein level identifier (n.a.):

p.Arg392Serfs*3

cDNA level identifier (n.a.):

c.1176_1177delAG

Gene level identifier:

g.1367575_1367576delAG

Archive identifier/Other designation:

p.Arg392_X394, c.1175_1176delGA, 1276-1277 del GA

Reference, alternative allele:

ACT, A

Genomic location hg(19)

6:161781227 (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:

4 homozygous (4 in total).