Protein level identifier (n.a.):
p.Phe403Leu
cDNA level identifier (n.a.):
c.1209C>A
Gene level identifier:
g.64833C>A
Reference, alternative allele:
C, A
Genomic location
not available
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
26
Positive functional evidence:
not available
Number of all included cases:
5 heterozygous (5 in total).