Protein level identifier (n.a.):
p.Arg33*
cDNA level identifier (n.a.):
c.97C>T
Gene level identifier:
g.284388C>T
Reference, alternative allele:
G, A
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:
2 homozygous (2 in total).