Protein level identifier (n.a.):
p.Asp584His
cDNA level identifier (n.a.):
c.1750G>C
Gene level identifier:
g.90785G>C
Reference, alternative allele:
G, C
Genomic location
not available
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
26
Positive functional evidence:
not available
Number of all included cases:
2 heterozygous (2 in total).