Mutation details:

Protein level identifier (NP_060676):

p.Glu787Lys

cDNA level identifier (NM_018206):

c.2359G>A

Gene level identifier:

g.29015G>A

Reference, alternative allele:

C, T

Genomic location hg(19)

16:46694416

Gene name:

VPS35

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

23

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).