cDNA level identifier (n.a.):
c.870+1G>A
Gene level identifier:
g.51216G>A
Archive identifier/Other designation:
IVS5+1G>A
Reference, alternative allele:
G, A
Genomic location
not available
Gene name:
Consequence:
splice site
Pathogenicity scoring:
Probably pathogenic
CADD score:
28
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).