Protein level identifier (n.a.):
p.Asn244Ilefs*22
cDNA level identifier (n.a.):
c.730_731insT
Gene level identifier:
g.51075_51076insT
Reference, alternative allele:
A, AT
Genomic location
not available
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Probably pathogenic
CADD score:
33
Positive functional evidence:
not available
Number of all included cases:
4 compound heterozygous (4 in total).