Protein level identifier (n.a.):
p.Arg378His
cDNA level identifier (n.a.):
c.1133G>A
Gene level identifier:
g.15721G>A
Reference, alternative allele:
G, A
Genomic location hg(19)
23:19377731 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
33
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).