Mutation details:

Protein level identifier:

p.Pro316Ser

cDNA level identifier:

c.946C>T

Genome level identifier:

g.14890C>T

Reference, alternative allele:

G, A

Genetic location (hg19):

chr16:46708541

Gene name:

VPS35

Consequence:

missense

Pathogenicity scoring:

probably pathogenic

CADD score:

17

Positive functional evidence:

25288323; 25533483; 26321632

Diseases reported for this mutation:

PARK-VPS35

Number of all included cases:

3 heterozygous (3 in total).

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