Protein level identifier (NP_006740):
p.Gly498Arg
cDNA level identifier (NM_006749):
c.1492G>A
Gene level identifier:
g.102532G>A
Archive identifier/Other designation:
p.G498R
Reference, alternative allele:
C, T
Genomic location hg(19)
8:42294538 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
not available
Positive functional evidence:
Number of all included cases:
2 heterozygous (2 in total).