Protein level identifier (n.a.):
p.Asn316Ilefs*13
cDNA level identifier (n.a.):
c.945delG
Gene level identifier:
g.52166delG
Reference, alternative allele:
AG, A
Genomic location
not available
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Probably pathogenic
CADD score:
27
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).