Protein level identifier (n.a.):
p.Gly231Arg
cDNA level identifier (n.a.):
c.691G>C
Gene level identifier:
g.52013G>C
Reference, alternative allele:
C, G
Genomic location hg(0)
22:38536095 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
32
Positive functional evidence:
not available
Number of all included cases:
1 compound heterozygous (1 in total).