Protein level identifier (n.a.):
p.Arg279Cys
cDNA level identifier (n.a.):
c.835C>T
Gene level identifier:
g.264242C>T
Reference, alternative allele:
G, A
Genomic location hg(0)
not available
Gene name:
Consequence:
missense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
26
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).