Mutation details:

Protein level identifier (NP_036311):

p.Arg498*

cDNA level identifier (NM_012179):

c.1492C>T

Genome level identifier:

g.23778C>T

Reference, alternative allele:

C, T

Genetic location hg(19)

(not available on ExAC)

Gene name:

FBXO7

Consequence:

nonsense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

47

Positive functional evidence:

21347293; 23933751;

Number of all included cases:

11 homozygous (11 in total).

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