Mutation details:

cDNA level identifier:

c.413-18966_871+72957delinsA

Genome level identifier:

g.507554_1014957delinsA

Archive identifier/Other designation:

deletion of exons 4-7

Reference, alternative allele:

G+507404, GA

Genetic location (hg19):

chr6:162133846 (not available on ExAC)

Gene name:

Parkin

Consequence:

structural variation

Pathogenicity scoring:

probably pathogenic

CADD score:

not available

Positive functional evidence:

not available

Diseases reported for this mutation:

PARK-Parkin

Number of all included cases:

1 homozygous (1 in total).

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