Mutation details:

Protein level identifier:

p.Ile560Thr

cDNA level identifier:

c.1679T>C

Genome level identifier:

g.26388T>C

Reference, alternative allele:

A, G

Genetic location (hg19):

chr16:46697043

Gene name:

VPS35

Consequence:

missense

Pathogenicity scoring:

possibly pathogenic

CADD score:

28

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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