Protein level identifier (NP_071372):
p.Gly504Arg
cDNA level identifier (NM_022089):
c.1510G>C
Gene level identifier:
g.15921G>C
Archive identifier/Other designation:
Gly504Arg
Reference, alternative allele:
C, G
Genomic location hg(0)
1:17322503 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Definitely pathogenic
CADD score:
24
Number of all included cases:
1 homozygous (1 in total).