cDNA level identifier (n.a.):
c.1687+2_1687+6delTAGGT
Gene level identifier:
g.81399_81403delTAGGT
Archive identifier/Other designation:
IVS15+2delTAGGT
Reference, alternative allele:
GTAGGT, G
Genomic location
not available
Gene name:
Consequence:
splice site
Pathogenicity scoring:
Probably pathogenic
CADD score:
24
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).