Protein level identifier (n.a.):
p.Arg538His
cDNA level identifier (n.a.):
c.1613G>A
Gene level identifier:
g.71213G>A
Reference, alternative allele:
C, T
Genomic location hg(0)
22:38516895 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
26
Positive functional evidence:
not available
Number of all included cases:
1 homozygous (1 in total).