Protein level identifier (n.a.):
p.Arg431*
cDNA level identifier (n.a.):
c.1291C>T
Gene level identifier:
g.72998C>T
Reference, alternative allele:
C, T
Genomic location
not available
Gene name:
Consequence:
nonsense
Pathogenicity scoring:
Probably pathogenic
CADD score:
37
Positive functional evidence:
not available
Number of all included cases:
10 heterozygous, 1 compound heterozygous (11 in total).