Mutation details:

Protein level identifier (NP_060676):

p.Ile560Thr

cDNA level identifier (NM_018206):

c.1679T>C

Gene level identifier:

g.26388T>C

Reference, alternative allele:

A, G

Genomic location hg(19)

16:46697043

Gene name:

VPS35

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

28

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).