Protein level identifier (n.a.):
p.Ala349Thr
cDNA level identifier (n.a.):
c.1045G>A
Gene level identifier:
g.15633G>A
Archive identifier/Other designation:
A349T
Reference, alternative allele:
G, A
Genomic location hg(19)
23:19377643 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
31
Positive functional evidence:
not available
Number of all included cases:
1 n.a. (1 in total).