Mutation details:

Protein level identifier (NP_036311):

p.Leu34Arg

cDNA level identifier (NM_012179):

c.101T>G

Gene level identifier:

g.428T>G

Reference, alternative allele:

T, G

Genomic location hg(0)

22:32871090 (not available on ExAC)

Gene name:

FBXO7

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

24

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 homozygous (2 in total).