Annotation Detail
Information
- Associated Genes
- NFKB1
- Associated Variants
-
NFKB1 c.2592+58T>A
(
ENST00000226574.9,
ENST00000394820.8,
ENST00000505458.5,
ENST00000507079.6,
ENST00000509165.2 )
NFKB1 c.2592+58T>A ( ENST00000226574.9, ENST00000394820.8, ENST00000505458.5, ENST00000507079.6, ENST00000509165.2 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_003998.4(NFKB1):c.2592+58T>A AND not provided
- ClinVar Allele ID
- 1247609
- ClinVar RefSeq Alternation Syntax
- NM_001165412.2:c.2589+58T>A
- ClinVar RefSeq Alternation Syntax
- NM_001382626.1:c.2592+58T>A
- ClinVar RefSeq Alternation Syntax
- NM_001382625.1:c.2592+58T>A
- ClinVar RefSeq Alternation Syntax
- NM_003998.4:c.2592+58T>A
- ClinVar RefSeq Alternation Syntax
- NM_001382627.1:c.2589+58T>A
- ClinVar RefSeq Alternation Syntax
- NM_001382628.1:c.2550+58T>A
- ClinVar RefSeq Alternation Syntax
- NM_001319226.2:c.2589+58T>A
- 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/RCV001673435
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs