Mutation details:

cDNA level identifier (NM_000345):

c.*464C>A

Gene level identifier:

g.112152C>A

Archive identifier/Other designation:

mir-153, 3`UTR 464C>A

Reference, alternative allele:

G, T

Genomic location hg(19)

4:90647315 (not available on ExAC)

Gene name:

SNCA

Consequence:

unknown effect

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).