cDNA level identifier (n.a.):
c.1005-1G>C
Gene level identifier:
g.52508G>C
Archive identifier/Other designation:
IVS6-1G>C
Reference, alternative allele:
G, C
Genomic location
not available
Gene name:
Consequence:
splice site
Pathogenicity scoring:
Probably pathogenic
CADD score:
32
Positive functional evidence:
not available
Number of all included cases:
3 heterozygous (3 in total).