Mutation details:

Protein level identifier:

p.Arg378Gly

cDNA level identifier:

c.1132C>G

Genome level identifier:

g.18594C>G

Archive identifier/Other designation:

g.18550C>G

Reference, alternative allele:

C, G

Genetic location (hg19):

chr22:32889256 (not available on ExAC)

Gene name:

FBXO7

Consequence:

missense

Pathogenicity scoring:

definitely pathogenic

CADD score:

34

Positive functional evidence:

21347293; 23933751,; 26310625,; 27689878,

Number of all included cases:

20 homozygous (20 in total).

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