Protein level identifier (NP_006507):
p.Arg223Pro
cDNA level identifier (NM_006516):
c.668G>C
Gene level identifier:
g.28976G>C
Reference, alternative allele:
C, G
Genomic location hg(19)
1:43395555 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
24
Positive functional evidence:
not available
Number of all included cases:
3 heterozygous (3 in total).