Protein level identifier (n.a.):
p.Gly278Arg
cDNA level identifier (n.a.):
c.832G>A
Gene level identifier:
g.13760G>A
Reference, alternative allele:
G, A
Genomic location hg(19)
23:19375770 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
35
Positive functional evidence:
not available
Number of all included cases:
2 n.a. (2 in total).