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