Mutation details:

Protein level identifier (n.a.):

p.Leu358Argfs*77

cDNA level identifier (n.a.):

c.1072_1073delCTinsA

Gene level identifier:

g.1178907_1178908delCTinsA

Archive identifier/Other designation:

p.L358Rfs*77

Reference, alternative allele:

CAG, CT

Genomic location hg(19)

6:161969895 (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 homozygous (1 in total).