Protein level identifier (n.a.):
p.Thr303Profs*12
cDNA level identifier (n.a.):
c.906delT
Gene level identifier:
g.52127delT
Reference, alternative allele:
CT, C
Genomic location
not available
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Probably pathogenic
CADD score:
26
Positive functional evidence:
not available
Number of all included cases:
12 heterozygous (12 in total).