Mutation details:

cDNA level identifier (NM_000345):

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

Archive identifier/Other designation:

whole gene triplication

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:

not available

Number of all included cases:

11 heterozygous (11 in total).