Mutation details:

Protein level identifier (n.a.):

p.Asp460Glyfs*8

cDNA level identifier (n.a.):

c.1378dupG

Gene level identifier:

g.1377653dupG

Archive identifier/Other designation:

c.1378_1379insG

Reference, alternative allele:

G, GG

Genomic location hg(19)

6:161771150 (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).