cDNA level identifier (n.a.):
c.1084-1delG
Gene level identifier:
g.1340894delG
Archive identifier/Other designation:
IVS9-1 G(del)
Reference, alternative allele:
AC, A
Genomic location hg(19)
6:161807909 (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:
2 homozygous (2 in total).