Mutation details:

Protein level identifier:

p.Ala53Thr

cDNA level identifier:

c.157G>A

Genome level identifier:

g.10167G>A

Archive identifier/Other designation:

G209A

Reference, alternative allele:

C, T

Genetic location (hg19):

chr4:90749300 (not available on ExAC)

Gene name:

SNCA

Consequence:

missense

Pathogenicity scoring:

definitely pathogenic

CADD score:

10

Positive functional evidence:

15585343; 20628651; 21684039; 24239384; 25296918; 26406140; 27034888; 28053029

Diseases reported for this mutation:

PARK-SNCA

Number of all included cases:

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

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