Mutation details:

Protein level identifier (NP_036311):

p.Arg498*

cDNA level identifier (NM_012179):

c.1492C>T

Gene level identifier:

g.23778C>T

Reference, alternative allele:

C, T

Genomic location hg(0)

22:32894440 (not available on ExAC)

Gene name:

FBXO7

Consequence:

nonsense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

41

Phosphorylation activity:

Positive functional evidence:

21347293; 23933751; 26310625;

Number of all included cases:

11 homozygous (11 in total).