Mutation details:

cDNA level identifier:

c.172-50_412+113dup

Genome level identifier:

g.4957_465360dup

Archive identifier/Other designation:

duplication of exon 3

Reference, alternative allele:

G, G+404bp

Genetic location (hg19):

chr6:162683444 (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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