Protein level identifier (n.a.):
p.Glu668Ala
cDNA level identifier (n.a.):
c.2003A>C
Gene level identifier:
g.320120A>C
Reference, alternative allele:
T, G
Genomic location hg(0)
not available
Gene name:
Consequence:
missense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
29
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).