Protein level identifier (n.a.):
p.Trp148*
cDNA level identifier (n.a.):
c.444G>A
Gene level identifier:
g.23910G>A
Reference, alternative allele:
G, A
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:
1 heterozygous (1 in total).