Protein level identifier (NP_060575):
p.Ala166Thr
cDNA level identifier (NM_018105):
c.496G>A
Gene level identifier:
g.5218G>A
Reference, alternative allele:
C, T
Genomic location hg(19)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
22
Positive functional evidence:
not available
Number of all included cases:
2 heterozygous (2 in total).