Annotation Detail

Information
Associated Genes
IKBKB
Associated Variants
IKBKB c.-18-96A>T ( ENST00000518983.1, ENST00000520810.6, ENST00000520835.7 )
IKBKB c.-18-96A>T ( ENST00000518983.1, ENST00000520810.6, ENST00000520835.7 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_001556.3(IKBKB):c.-18-96A>T AND not provided
ClinVar Allele ID
1256617
ClinVar RefSeq Alternation Syntax
NM_001242778.2:c.-100-96A>T
ClinVar RefSeq Alternation Syntax
NM_001556.3:c.-18-96A>T
ClinVar RefSeq Alternation Syntax
NM_001190720.3:c.-88+518A>T
Clinical Significance Description
Benign
Clinical Significance Last Update
2021-06-19
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001676109
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs