Protein level identifier (n.a.):
p.Ser44*
cDNA level identifier (n.a.):
c.131C>A
Gene level identifier:
g.352C>A
Reference, alternative allele:
C, A
Genomic location
not available
Gene name:
Consequence:
nonsense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
35
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).