Mutation details:

cDNA level identifier (n.a.):

c.1-17782_7+123791del

Gene level identifier:

g.-17679_123901del

Archive identifier/Other designation:

deletion of promotor + exon 1

Reference, alternative allele:

G+141580, G

Genomic location hg(19)

6:163024902 (not available on ExAC)

Gene name:

Parkin

Consequence:

unknown effect

Pathogenicity scoring:

Definitely pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 compound heterozygous (1 in total).