Mutation details:

cDNA level identifier (n.a.):

c.1083+1G>A

Gene level identifier:

g.1178919G>A

Archive identifier/Other designation:

IVS9+1G>A

Reference, alternative allele:

C, T

Genomic location hg(19)

6:161969885 (not available on ExAC)

Gene name:

Parkin

Consequence:

splice site 1 3bp

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).