Annotation Detail
Information
- Associated Genes
- HBB LOC107133510 LOC110006319
- Associated Variants
-
HBB p.Val127Gly (p.V127G)
(
ENST00000335295.4,
ENST00000647020.1 )
HBB p.Val127Gly (p.V127G) ( ENST00000335295.4, ENST00000647020.1 ) - Associated Disease
- hemoglobinopathy
- Source Database
- ClinVar
- Description
- NM_000518.5(HBB):c.380T>G (p.Val127Gly) AND Hemoglobinopathy
- ClinVar Allele ID
- 30522
- ClinVar RefSeq Alternation Syntax
- NM_000518.5:c.380T>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2004-01-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000016741
- ClinVar Disease
- Hemoglobinopathy
- Observed Origin Sample
- germline
- Pubmed
- 2399911
- Pubmed
- 15658193
- Pubmed
- 1954392
Drugs