Mutation details:

Protein level identifier (NP_036311):

p.Glu470*

cDNA level identifier (NM_012179):

c.1408G>T

Gene level identifier:

g.23694G>T

Reference, alternative allele:

G, T

Genomic location hg(0)

22:32894356 (not available on ExAC)

Gene name:

FBXO7

Consequence:

nonsense

Pathogenicity scoring:

Probably pathogenic

CADD score:

37

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 compound heterozygous (1 in total).