Protein level identifier (NP_115785):
p.Gly409Arg
cDNA level identifier (NM_032409):
c.1225G>A
Gene level identifier:
g.15152G>A
Reference, alternative allele:
G, A
Genomic location hg(19)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
34
Positive functional evidence:
not available
Number of all included cases:
2 homozygous (2 in total).