Protein level identifier (n.a.):
p.Ser245*
cDNA level identifier (n.a.):
c.734C>G
Gene level identifier:
g.51079C>G
Reference, alternative allele:
C, G
Genomic location
not available
Gene name:
Consequence:
nonsense
Pathogenicity scoring:
Probably pathogenic
CADD score:
38
Positive functional evidence:
not available
Number of all included cases:
5 heterozygous (5 in total).