Mutation details:

Protein level identifier:

p.Asn51Ser

cDNA level identifier:

c.152A>G

Genome level identifier:

g.4335A>G

Reference, alternative allele:

A, G

Genetic location (hg19):

chr22:32874997 (not available on ExAC)

Gene name:

FBXO7

Consequence:

missense

Pathogenicity scoring:

probably pathogenic

CADD score:

25

Positive functional evidence:

not available

Number of all included cases:

2 compound heterozygous (2 in total).

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