Protein level identifier (NP_115785):
p.Arg279His
cDNA level identifier (NM_032409):
c.836G>A
Gene level identifier:
g.11095G>A
Reference, alternative allele:
G, A
Genomic location hg(19)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
26
Positive functional evidence:
not available
Number of all included cases:
1 compound heterozygous (1 in total).