Protein level identifier (n.a.):
p.Phe107Leu
cDNA level identifier (n.a.):
c.319T>C
Gene level identifier:
g.28334T>C
Reference, alternative allele:
A, G
Genomic location
3:33110389 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
23
Positive functional evidence:
not available
Number of all included cases:
1 compound heterozygous (1 in total).