Mutation details:

Protein level identifier (NP_000336):

p.Ala30Pro

cDNA level identifier (NM_000345):

c.88G>C

Gene level identifier:

g.2736G>C

Reference, alternative allele:

C, G

Genomic location hg(19)

4:90756731 (not available on ExAC)

Gene name:

SNCA

Consequence:

missense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

3 n.a. (3 in total).