Mutation details:

Protein level identifier (NP_060676):

p.Ala737Val

cDNA level identifier (NM_018206):

c.2210C>T

Gene level identifier:

g.27800C>T

Reference, alternative allele:

G, A

Genomic location hg(19)

16:46695631

Gene name:

VPS35

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

24

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).