Mutation details:

cDNA level identifier:

c.172-50_734+49del

Genome level identifier:

g.464957_754519del

Archive identifier/Other designation:

deletion of exons 3-6

Reference, alternative allele:

A+289563bp, A

Genetic location (hg19):

chr6:162394284 (not available on ExAC)

Gene name:

Parkin

Consequence:

structural variation

Pathogenicity scoring:

definitely pathogenic

CADD score:

not available

Positive functional evidence:

not available

Diseases reported for this mutation:

PARK-Parkin

Number of all included cases:

1 compound heterozygous (1 in total).

×