Protein level identifier (NP_003681):
p.Cys213Arg
cDNA level identifier (NM_003690):
c.637T>C
Gene level identifier:
g.15221T>C
Reference, alternative allele:
A, G
Genomic location hg(19)
2:179301019 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).