Protein level identifier (NP_000208):
p.Arg324Thr
cDNA level identifier (NM_000217):
c.971G>C
Gene level identifier:
g.2445G>C
Reference, alternative allele:
G, C
Genomic location hg(19)
12:5021515 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
28
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).