Protein level identifier (n.a.):
p.Ser774Ile
cDNA level identifier (n.a.):
c.2321G>T
Gene level identifier:
g.79840G>T
Reference, alternative allele:
C, A
Genomic location hg(0)
22:38508268 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
21
Positive functional evidence:
not available
Number of all included cases:
1 compound heterozygous (1 in total).