Mutation details:

cDNA level identifier (n.a.):

c.618+2T>A

Gene level identifier:

g.673683T>A

Archive identifier/Other designation:

IVS5+2T>A

Reference, alternative allele:

A, T

Genomic location hg(19)

6:162475121 (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:

5 compound heterozygous (5 in total).