Mutation details:

cDNA level identifier (n.a.):

c.1083+5G>T

Gene level identifier:

g.1178923G>T

Archive identifier/Other designation:

IVS9+4G>T (IVS9+5G>T)

Reference, alternative allele:

C, A

Genomic location hg(19)

6:161969881 (not available on ExAC)

Gene name:

Parkin

Consequence:

splice site 1 3bp

Pathogenicity scoring:

Possibly pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

3 compound heterozygous (3 in total).