Protein level identifier (NP_004163):
p.Pro290Arg
cDNA level identifier (NM_004172):
c.869C>G
Gene level identifier:
g.73281C>G
Archive identifier/Other designation:
1047C>G
Reference, alternative allele:
C, G
Genomic location hg(19)
5:36679737 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Definitely pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).