Protein level identifier (NP_006740):
p.Ala585Thr
cDNA level identifier (NM_006749):
c.1753G>A
Gene level identifier:
g.110753G>A
Archive identifier/Other designation:
p.A585T
Reference, alternative allele:
C, T
Genomic location hg(19)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
2 heterozygous (2 in total).