Mutation details:

Protein level identifier:

p.Glu787Lys

cDNA level identifier:

c.2359G>A

Genome level identifier:

g.29015G>A

Reference, alternative allele:

C, T

Genetic location (hg19):

chr16:46694416

Gene name:

VPS35

Consequence:

missense

Pathogenicity scoring:

possibly pathogenic

CADD score:

23

Positive functional evidence:

not available

Diseases reported for this mutation:

PARK-VPS35

Number of all included cases:

1 heterozygous (1 in total).

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