Protein level identifier (NP_000152):
p.Arg184Cys
cDNA level identifier (NM_000161):
c.550C>T
Gene level identifier:
g.57009C>T
Archive identifier/Other designation:
p.R184C
Reference, alternative allele:
G, A
Genomic location hg(0)
14:55312562 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
27
Positive functional evidence:
not available
Number of all included cases:
7 heterozygous (7 in total).