Protein level identifier (n.a.):
p.Tyr74*
cDNA level identifier (n.a.):
c.222C>A
Gene level identifier:
g.26481C>A
Reference, alternative allele:
G, T
Genomic location hg(19)
Gene name:
Consequence:
nonsense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).