cDNA level identifier (n.a.):
c.3992+1G>A
Gene level identifier:
g.348142G>A
Archive identifier/Other designation:
IVS24+1G>A
Reference, alternative allele:
C, T
Genomic location hg(0)
not available
Gene name:
Consequence:
splice site
Pathogenicity scoring:
Probably pathogenic
CADD score:
34
Positive functional evidence:
not available
Number of all included cases:
4 heterozygous (4 in total).