Mutation details:

Protein level identifier (NP_060676):

p.Asp620Asn

cDNA level identifier (NM_018206):

c.1858G>A

Gene level identifier:

g.27067G>A

Reference, alternative allele:

C, T

Genomic location hg(19)

16:46696364 (not available on ExAC)

Gene name:

VPS35

Consequence:

missense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

34

Positive functional evidence:

24152121; 24740878; 24819384; 24980502; 25288323; 25416282; 25533483; 26203154; 26251041; 26321632; 26618722; 26700726; 27262440; 27460146; 27562021; 28040727;

Number of all included cases:

49 heterozygous, 1 compound heterozygous (50 in total).

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