Mutation details:

Protein level identifier (n.a.):

p.Thr414Profs*20

cDNA level identifier (n.a.):

c.1240delA

Gene level identifier:

g.1367639delA

Reference, alternative allele:

GT, G

Genomic location hg(19)

6:161781164 (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 homozygous (2 in total).