Protein level identifier (n.a.):
p.Thr286Ile
cDNA level identifier (n.a.):
c.857C>T
Gene level identifier:
g.13785C>T
Reference, alternative allele:
C, T
Genomic location hg(19)
23:19375795 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
28
Positive functional evidence:
not available
Number of all included cases:
1 n.a. (1 in total).