Mutation details:

Protein level identifier (NP_036311):

p.Arg378Gly

cDNA level identifier (NM_012179):

c.1132C>G

Gene level identifier:

g.18594C>G

Archive identifier/Other designation:

g.18550C>G

Reference, alternative allele:

C, G

Genomic location hg(0)

22:32889256 (not available on ExAC)

Gene name:

FBXO7

Consequence:

missense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

31

Phosphorylation activity:

Positive functional evidence:

21347293; 23933751; 26310625; 27689878;

Number of all included cases:

10 homozygous (10 in total).