Mutation details:

Protein level identifier (NP_060676):

p.Arg524Trp

cDNA level identifier (NM_018206):

c.1570C>T

Gene level identifier:

g.20512C>T

Reference, alternative allele:

G, A

Genomic location hg(19)

16:46702919 (not available on ExAC)

Gene name:

VPS35

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

34

Positive functional evidence:

26321632;

Number of all included cases:

1 heterozygous (1 in total).

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