Protein level identifier (n.a.):
p.Ala405Thr
cDNA level identifier (n.a.):
c.1213G>A
Gene level identifier:
g.291080G>A
Reference, alternative allele:
C, T
Genomic location hg(0)
not available
Gene name:
Consequence:
missense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
27
Positive functional evidence:
not available
Number of all included cases:
3 heterozygous (3 in total).