Mutation details:

Protein level identifier:

p.Leu774Met

cDNA level identifier:

c.2320C>A

Genome level identifier:

g.28976C>A

Reference, alternative allele:

G, T

Genetic location (hg19):

chr16:46694455 (not available on ExAC)

Gene name:

VPS35

Consequence:

missense

Pathogenicity scoring:

possibly pathogenic

CADD score:

24

Positive functional evidence:

not available

Diseases reported for this mutation:

PARK-VPS35

Number of all included cases:

7 heterozygous, 1 compound heterozygous (8 in total).

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