cDNA level identifier (n.a.):
c.1005-1G>A
Gene level identifier:
g.52508G>A
Archive identifier/Other designation:
IVS6-1G>A
Reference, alternative allele:
G, A
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:
9 heterozygous (9 in total).