Mutation details:

Protein level identifier:

p.Arg498*

cDNA level identifier:

c.1492C>T

Genome level identifier:

g.23778C>T

Reference, alternative allele:

C, T

Genetic location (hg19):

chr22:32894440 (not available on ExAC)

Gene name:

FBXO7

Consequence:

nonsense

Pathogenicity scoring:

definitely pathogenic

CADD score:

47

Positive functional evidence:

,; 21347293; 23933751; 26310625,

Number of all included cases:

22 homozygous (22 in total).

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