Protein level identifier (n.a.):
p.Ser249*
cDNA level identifier (n.a.):
c.746C>G
Gene level identifier:
g.51091C>G
Reference, alternative allele:
C, G
Genomic location
not available
Gene name:
Consequence:
nonsense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
37
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).