Protein level identifier (NP_006507):
p.Arg269Cys
cDNA level identifier (NM_006516):
c.805C>T
Gene level identifier:
g.29205C>T
Reference, alternative allele:
G, A
Genomic location hg(19)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
35
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).