cDNA level identifier (n.a.):
c.1174-1G>C
Gene level identifier:
g.64797G>C
Archive identifier/Other designation:
IVS8-1G>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:
2 heterozygous (2 in total).