Protein level identifier (n.a.):
p.His792Pro
cDNA level identifier (n.a.):
c.2375A>C
Gene level identifier:
g.79894A>C
Reference, alternative allele:
T, G
Genomic location hg(0)
22:38508214 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
22
Positive functional evidence:
not available
Number of all included cases:
1 homozygous (1 in total).