Protein level identifier (n.a.):
p.Glu206Lys
cDNA level identifier (n.a.):
c.616G>A
Gene level identifier:
g.11469G>A
Reference, alternative allele:
G, A
Genomic location hg(19)
23:19373479 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
33
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).