Protein level identifier (n.a.):
p.Asp739His
cDNA level identifier (n.a.):
c.2215G>C
Gene level identifier:
g.79536G>C
Reference, alternative allele:
C, G
Genomic location hg(0)
22:38508572 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
27
Positive functional evidence:
not available
Number of all included cases:
1 homozygous (1 in total).