Protein level identifier (n.a.):
p.Gly185Gly
cDNA level identifier (n.a.):
c.555A>G
Gene level identifier:
g.10643A>G
Reference, alternative allele:
A, G
Genomic location hg(19)
23:19372653 (not available on ExAC)
Gene name:
Consequence:
silent
Pathogenicity scoring:
Possibly pathogenic
CADD score:
12
Positive functional evidence:
not available
Number of all included cases:
2 n.a. (2 in total).