Mutation details:

cDNA level identifier (NM_000345):

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

Archive identifier/Other designation:

whole gene duplication

Genomic location hg(19)

not available

Gene name:

SNCA

Consequence:

structural variation

Pathogenicity scoring:

Definitely pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

22392151; 28973645;

Number of all included cases:

2 homozygous, 45 heterozygous (47 in total).