Protein level identifier (n.a.):
p.Ala454Thr
cDNA level identifier (n.a.):
c.1360G>A
Gene level identifier:
g.306681G>A
Reference, alternative allele:
C, T
Genomic location hg(0)
not available
Gene name:
Consequence:
missense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
25
Positive functional evidence:
not available
Number of all included cases:
5 heterozygous (5 in total).