cDNA level identifier (n.a.):
c.4392-1G>C
Gene level identifier:
g.366439G>C
Archive identifier/Other designation:
IVS27-1G>C
Reference, alternative allele:
C, G
Genomic location hg(0)
not available
Gene name:
Consequence:
splice site
Pathogenicity scoring:
Probably pathogenic
CADD score:
23
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).