Protein level identifier (n.a.):
p.Glu75Ala
cDNA level identifier (n.a.):
c.224A>C
Gene level identifier:
g.6151A>C
Archive identifier/Other designation:
E75A
Reference, alternative allele:
A, C
Genomic location hg(19)
23:19368161 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
27
Positive functional evidence:
not available
Number of all included cases:
1 n.a. (1 in total).