Protein level identifier (NP_899200):
p.Arg418Gly
cDNA level identifier (NM_183357):
c.1252C>G
Gene level identifier:
g.97295C>G
Archive identifier/Other designation:
p.R418G
Reference, alternative allele:
G, C
Genomic location hg(19)
3:123071311 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
5 heterozygous (5 in total).