Protein level identifier (NP_060575):
p.Thr59Ile
cDNA level identifier (NM_018105):
c.176C>T
Gene level identifier:
g.4049C>T
Reference, alternative allele:
G, A
Genomic location hg(19)
8:42694420 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
24
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).