Protein level identifier (n.a.):
p.Tyr269*
cDNA level identifier (n.a.):
c.807C>A
Gene level identifier:
g.51152C>A
Reference, alternative allele:
C, A
Genomic location
not available
Gene name:
Consequence:
nonsense
Pathogenicity scoring:
Probably pathogenic
CADD score:
36
Positive functional evidence:
not available
Number of all included cases:
4 heterozygous (4 in total).