Protein level identifier (n.a.):
p.Thr666Met
cDNA level identifier (n.a.):
c.1997C>T
Gene level identifier:
g.320114C>T
Reference, alternative allele:
C, T
Genomic location hg(0)
not available
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
25
Positive functional evidence:
not available
Number of all included cases:
26 heterozygous (26 in total).