Annotation Detail
Information
- Associated Genes
- HBB LOC107133510 LOC110006319
- Associated Variants
-
HBB p.Ala116Asp (p.A116D)
(
ENST00000335295.4,
ENST00000647020.1 )
HBB p.Ala116Asp (p.A116D) ( ENST00000335295.4, ENST00000647020.1 ) - Associated Disease
- hemoglobinopathy
- Source Database
- ClinVar
- Description
- NM_000518.5(HBB):c.347C>A (p.Ala116Asp) AND Hemoglobinopathy
- ClinVar Allele ID
- 30565
- ClinVar RefSeq Alternation Syntax
- NM_000518.5:c.347C>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1993-08-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000016791
- ClinVar Disease
- Hemoglobinopathy
- Observed Origin Sample
- germline
- Pubmed
- 7693620
Drugs