Protein level identifier (n.a.):
p.Lys519*
cDNA level identifier (n.a.):
c.1555A>T
Gene level identifier:
g.79744A>T
Reference, alternative allele:
A, T
Genomic location
not available
Gene name:
Consequence:
nonsense
Pathogenicity scoring:
Probably pathogenic
CADD score:
43
Positive functional evidence:
not available
Number of all included cases:
2 heterozygous (2 in total).