Mutation details:

cDNA level identifier:

c.8-54_171+49del

Genome level identifier:

g.284245_284511del

Archive identifier/Other designation:

deletion of exon 2

Reference, alternative allele:

C+267bp, C

Genetic location (hg19):

chr6:162864292 (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 homozygous (1 in total).

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