cDNA level identifier (n.a.):
c.1688-3C>G
Gene level identifier:
g.83605C>G
Archive identifier/Other designation:
IVS15-3C>G
Reference, alternative allele:
C, G
Genomic location
not available
Gene name:
Consequence:
splice site
Pathogenicity scoring:
Possibly pathogenic
CADD score:
17
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).