Mutation details:

Protein level identifier (NP_000336):

p.His50Gln

cDNA level identifier (NM_000345):

c.150T>G

Gene level identifier:

g.10160T>G

Reference, alternative allele:

A, C

Genomic location hg(19)

4:90749307

Gene name:

SNCA

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous, 1 n.a. (2 in total).