Mutation details:

Protein level identifier:

p.Ala737Val

cDNA level identifier:

c.2210C>T

Genome level identifier:

g.27800C>T

Reference, alternative allele:

G, A

Genetic location (hg19):

chr16:46695631

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:

1 heterozygous (1 in total).

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