Protein level identifier (n.a.):
p.Gly740Arg
cDNA level identifier (n.a.):
c.2218G>A
Gene level identifier:
g.79539G>A
Reference, alternative allele:
C, T
Genomic location hg(0)
22:38508569 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
29
Positive functional evidence:
not available
Number of all included cases:
1 homozygous, 1 compound heterozygous (2 in total).