Protein level identifier (n.a.):
p.Glu1926*
cDNA level identifier (n.a.):
c.5776G>T
Gene level identifier:
g.409424G>T
Reference, alternative allele:
C, A
Genomic location hg(0)
not available
Gene name:
Consequence:
nonsense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
43
Positive functional evidence:
not available
Number of all included cases:
1 n.a. (1 in total).