Mutation details:

Protein level identifier (n.a.):

p.Leu226Phefs*8

cDNA level identifier (n.a.):

c.677dupT

Gene level identifier:

g.754413dupT

Archive identifier/Other designation:

c.674insT

Reference, alternative allele:

C, CA

Genomic location hg(19)

6:162394389 (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 compound heterozygous (1 in total).