cDNA level identifier (n.a.):
c.1413+2T>A
Gene level identifier:
g.73360T>A
Archive identifier/Other designation:
IVS11+2T>A
Reference, alternative allele:
T, A
Genomic location
not available
Gene name:
Consequence:
splice site
Pathogenicity scoring:
Probably pathogenic
CADD score:
34
Positive functional evidence:
not available
Number of all included cases:
2 heterozygous (2 in total).