Mutation details:

cDNA level identifier (n.a.):

c.618+17A>C

Gene level identifier:

g.673698A>C

Archive identifier/Other designation:

IVS5+17

Reference, alternative allele:

T, G

Genomic location hg(19)

6:162475106

Gene name:

Parkin

Consequence:

unknown effect

Pathogenicity scoring:

Possibly pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 compound heterozygous (1 in total).