Mutation details:

cDNA level identifier (NM_012179):

c.1144+1G>T

Gene level identifier:

g.18607G>T

Reference, alternative allele:

G, T

Genomic location hg(0)

22:32889269 (not available on ExAC)

Gene name:

FBXO7

Consequence:

splice site

Pathogenicity scoring:

Probably pathogenic

CADD score:

35

Phosphorylation activity:

Positive functional evidence:

19038853; 21347293;

Number of all included cases:

2 compound heterozygous (2 in total).