cDNA level identifier (n.a.):
c.1413+4A>G
Gene level identifier:
g.73362
Archive identifier/Other designation:
IVS11+4A>G
Reference, alternative allele:
A, G
Genomic location
not available
Gene name:
Consequence:
splice site
Pathogenicity scoring:
Possibly pathogenic
CADD score:
19
Positive functional evidence:
not available
Number of all included cases:
2 heterozygous (2 in total).