Mutation details:

Protein level identifier (NP_060676):

p.Val195=

cDNA level identifier (NM_018206):

c.585G>A

Gene level identifier:

g.10441G>A

Reference, alternative allele:

C, T

Genomic location hg(19)

16:46712990 (not available on ExAC)

Gene name:

VPS35

Consequence:

silent

Pathogenicity scoring:

Possibly pathogenic

CADD score:

15

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).