cDNA level identifier (n.a.):
c.1414-2A>C
Gene level identifier:
g.73497A>C
Archive identifier/Other designation:
IVS11-2A>C
Reference, alternative allele:
A, C
Genomic location
not available
Gene name:
Consequence:
splice site
Pathogenicity scoring:
Probably pathogenic
CADD score:
33
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).