cDNA level identifier (n.a.):
c.1246-4_1246-2delinsCT
Gene level identifier:
g.72949_72951delinsCT
Archive identifier/Other designation:
IVS9-4_2delinsCT
Reference, alternative allele:
TTTA, TCT
Genomic location
not available
Gene name:
Consequence:
splice site
Pathogenicity scoring:
Possibly pathogenic
CADD score:
25
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).