cDNA level identifier (n.a.):
c.1098+1G>C
Gene level identifier:
g.52603G>C
Archive identifier/Other designation:
IVS7+1G>C
Reference, alternative allele:
G, C
Genomic location
not available
Gene name:
Consequence:
splice site
Pathogenicity scoring:
Possibly pathogenic
CADD score:
28
Positive functional evidence:
not available
Number of all included cases:
1 compound heterozygous (1 in total).