Protein level identifier (n.a.):
p.Trp100*
cDNA level identifier (n.a.):
c.300G>A
Gene level identifier:
g.27918G>A
Reference, alternative allele:
C, T
Genomic location hg(19)
Gene name:
Consequence:
nonsense
Pathogenicity scoring:
Probably pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
6 heterozygous (6 in total).