Protein level identifier (n.a.):
p.Arg498Gly
cDNA level identifier (n.a.):
c.1492A>G
Gene level identifier:
g.73577A>G
Reference, alternative allele:
A, G
Genomic location
not available
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
32
Positive functional evidence:
not available
Number of all included cases:
2 heterozygous (2 in total).