Protein level identifier (n.a.):
p.Gly586Arg
cDNA level identifier (n.a.):
c.1756G>A
Gene level identifier:
g.75903G>A
Reference, alternative allele:
C, T
Genomic location hg(0)
22:38512205 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
28
Positive functional evidence:
not available
Number of all included cases:
1 homozygous (1 in total).