cDNA level identifier (n.a.):
c.1413+5G>A
Gene level identifier:
g.73363G>A
Archive identifier/Other designation:
IVS11+5G>A
Reference, alternative allele:
G, A
Genomic location
not available
Gene name:
Consequence:
splice site
Pathogenicity scoring:
Probably pathogenic
CADD score:
22
Positive functional evidence:
not available
Number of all included cases:
4 heterozygous (4 in total).