Protein level identifier (NP_006507):
p.Arg218Ser
cDNA level identifier (NM_006516):
c.652C>A
Gene level identifier:
g.28960C>A
Reference, alternative allele:
G, T
Genomic location hg(19)
1:43395571 (not available on ExAC)
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).