Protein level identifier (NP_060575):
p.Arg29Pro
cDNA level identifier (NM_018105):
c.86G>C
Gene level identifier:
g.3959G>C
Reference, alternative allele:
C, G
Genomic location hg(19)
8:42694510 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
33
Positive functional evidence:
not available
Number of all included cases:
2 heterozygous (2 in total).