Mutation details:

Protein level identifier (NP_060676):

p.Leu774Met

cDNA level identifier (NM_018206):

c.2320C>A

Gene level identifier:

g.28976C>A

Reference, alternative allele:

G, T

Genomic location hg(19)

16:46694455

Gene name:

VPS35

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

24

Positive functional evidence:

not available

Number of all included cases:

7 heterozygous, 1 compound heterozygous (8 in total).

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