Protein level identifier (NP_060575):
p.Arg169Gln
cDNA level identifier (NM_018105):
c.506G>A
Gene level identifier:
g.5228G>A
Reference, alternative allele:
C, T
Genomic location hg(19)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
24
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).