Protein level identifier (n.a.):
p.Arg117*
cDNA level identifier (n.a.):
c.349C>T
Gene level identifier:
g.570C>T
Reference, alternative allele:
C, T
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).