Mutation details:

cDNA level identifier (n.a.):

c.8-39T>G

Gene level identifier:

g.284260T>G

Archive identifier/Other designation:

IVS1-39G->T

Reference, alternative allele:

A, C

Genomic location hg(19)

6:162864544 (not available on ExAC)

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).