cDNA level identifier (n.a.):
c.1098+1_1098+2delinsCTCAGA
Gene level identifier:
g.52603_52604delinsCTCAGA
Archive identifier/Other designation:
IVS7+1_2delinsCTCAGA
Reference, alternative allele:
GGT, GCTCAGA
Genomic location
not available
Gene name:
Consequence:
splice site
Pathogenicity scoring:
Probably pathogenic
CADD score:
23
Positive functional evidence:
not available
Number of all included cases:
3 heterozygous (3 in total).