Mutation details:

cDNA level identifier:

c.(?_-1471)_(*575_?)dup

Archive identifier/Other designation:

whole gene duplication

Gene name:

SNCA

Consequence:

structural variation

Pathogenicity scoring:

definitely pathogenic

CADD score:

not available

Positive functional evidence:

not available

Diseases reported for this mutation:

PARK-SNCA

Number of all included cases:

2 homozygous, 45 heterozygous (47 in total).

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