Mutation details:

Protein level identifier:

p.Ala53Glu

cDNA level identifier:

c.158C>A

Genome level identifier:

g.10168C>A

Reference, alternative allele:

G, T

Genetic location (hg19):

chr4:90749299 (not available on ExAC)

Gene name:

SNCA

Consequence:

missense

Pathogenicity scoring:

probably pathogenic

CADD score:

not available

Positive functional evidence:

not available

Diseases reported for this mutation:

PARK-SNCA

Number of all included cases:

5 heterozygous, 1 n.g. (6 in total).

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