Mutation details:

cDNA level identifier:

c.535-104014_618+24033delTGAGTGATGCCTins

Genome level identifier:

g.569584_697714delTGAGTGATGCCTins

Archive identifier/Other designation:

deletion of exon 5

Reference, alternative allele:

C+128000, C+AGGCATCACTCA

Genetic location (hg19):

chr6:162451089 (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:

3 homozygous (3 in total).

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