cDNA level identifier (n.a.):
c.1083+1delG
Gene level identifier:
g.1178919delG
Archive identifier/Other designation:
IVS9 1083+1delG
Reference, alternative allele:
AC, A
Genomic location hg(19)
6:161969884 (not available on ExAC)
Gene name:
Consequence:
splice site 1 3bp
Pathogenicity scoring:
Probably pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
1 compound heterozygous (1 in total).