Mutation details:

Protein level identifier (NP_000336):

p.Glu46Lys

cDNA level identifier (NM_000345):

c.136G>A

Gene level identifier:

g.10146G>A

Reference, alternative allele:

C, T

Genomic location hg(19)

4:90749321 (not available on ExAC)

Gene name:

SNCA

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

15 heterozygous (15 in total).