cDNA level identifier (n.a.):
c.1728+1G>C
Gene level identifier:
g.83649G>C
Archive identifier/Other designation:
IVS16+1G>C
Reference, alternative allele:
G, C
Genomic location
not available
Gene name:
Consequence:
splice site
Pathogenicity scoring:
Probably pathogenic
CADD score:
34
Positive functional evidence:
not available
Number of all included cases:
6 heterozygous (6 in total).