Protein level identifier (n.a.):
p.Gly195Ala
cDNA level identifier (n.a.):
c.584G>C
Gene level identifier:
g.10672G>C
Reference, alternative allele:
G, C
Genomic location hg(19)
23:19372682 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
27
Positive functional evidence:
not available
Number of all included cases:
4 n.a. (4 in total).