Mutation details:

cDNA level identifier (n.a.):

c.7+1G>T

Gene level identifier:

g.111G>T

Archive identifier/Other designation:

IVS1+1G/T

Reference, alternative allele:

C, A

Genomic location hg(19)

6:163148693 (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:

10 homozygous (10 in total).