Protein level identifier (NP_004727):
p.Arg459Cys
cDNA level identifier (NM_004736):
c.1375C>T
Gene level identifier:
g.204587C>T
Reference, alternative allele:
C, T
Genomic location hg(19)
1:180805726 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).