Mutation details:

Protein level identifier (NP_036311):

p.Glu470*

cDNA level identifier (NM_012179):

c.1408G>T

Genome level identifier:

g.23694G>T

Reference, alternative allele:

G, T

Genetic location hg(19)

(not available on ExAC)

Gene name:

FBXO7

Consequence:

nonsense

Pathogenicity scoring:

Probably pathogenic

CADD score:

39

Positive functional evidence:

not available

Number of all included cases:

1 compound heterozygous (1 in total).

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