Mutation details:

Protein level identifier:

p.Thr22Met

cDNA level identifier:

c.65C>T

Genome level identifier:

g.392C>T

Reference, alternative allele:

C, T

Genetic location (hg19):

chr22:32871054 (not available on ExAC)

Gene name:

FBXO7

Consequence:

missense

Pathogenicity scoring:

definitely pathogenic

CADD score:

28

Positive functional evidence:

,; 21347293; 23933751; 26310625,

Number of all included cases:

4 compound heterozygous (4 in total).

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