cDNA level identifier (n.a.):
c.683-1G>A
Gene level identifier:
g.51027G>A
Archive identifier/Other designation:
IVS4-1G>A
Reference, alternative allele:
G, A
Genomic location
not available
Gene name:
Consequence:
splice site
Pathogenicity scoring:
Probably pathogenic
CADD score:
33
Positive functional evidence:
not available
Number of all included cases:
2 heterozygous (2 in total).