Mutation details:

Protein level identifier (NP_036311):

p.Asn51Ser

cDNA level identifier (NM_012179):

c.152A>G

Gene level identifier:

g.4335A>G

Reference, alternative allele:

A, G

Genomic location hg(0)

22:32874997 (not available on ExAC)

Gene name:

FBXO7

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

25

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 compound heterozygous (1 in total).