cDNA level identifier (n.a.):
c.586+9_586+12delTAAT
Gene level identifier:
g.26004_26007delTAAT
Archive identifier/Other designation:
IVS3+9_12delTAAT
Reference, alternative allele:
TTAAT, T
Genomic location
not available
Gene name:
Consequence:
splice site
Pathogenicity scoring:
Probably pathogenic
CADD score:
16
Positive functional evidence:
not available
Number of all included cases:
12 heterozygous (12 in total).