Protein level identifier (NP_115785):
p.Trp437*
cDNA level identifier (NM_032409):
c.1311G>A
Gene level identifier:
g.15600G>A
Reference, alternative allele:
G, A
Genomic location hg(19)
Gene name:
Consequence:
nonsense
Pathogenicity scoring:
Definitely pathogenic
CADD score:
43
Positive functional evidence:
Number of all included cases:
9 homozygous (9 in total).