Mutation details:

Protein level identifier (NP_060676):

p.His599Arg

cDNA level identifier (NM_018206):

c.1796A>G

Gene level identifier:

g.26505A>G

Reference, alternative allele:

T, C

Genomic location hg(19)

16:46696926 (not available on ExAC)

Gene name:

VPS35

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

17

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).