Mutation details:

Protein level identifier (NP_000336):

p.Ala53Thr

cDNA level identifier (NM_000345):

c.157G>A

Gene level identifier:

g.10167G>A

Archive identifier/Other designation:

G209A

Reference, alternative allele:

C, T

Genomic location hg(19)

4:90749300 (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:

42 heterozygous, 11 n.a. (53 in total).

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