Annotation Detail
Information
- Associated Genes
- HBB LOC106099062 LOC107133510
- Associated Variants
-
HBB p.Gly70Asp (p.G70D)
(
ENST00000647020.1,
ENST00000335295.4,
ENST00000485743.1 )
HBB p.Gly70Asp (p.G70D) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_000518.5(HBB):c.209G>A (p.Gly70Asp) AND not specified
- ClinVar Allele ID
- 30265
- ClinVar RefSeq Alternation Syntax
- NM_000518.5:c.209G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2000-05-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000016423
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
- Pubmed
- 10870889
- Pubmed
- 6048303
- Pubmed
- 5856126
Drugs