Annotation Detail
Information
- Associated Genes
- HBA1 LOC106804613
- Associated Variants
-
HBA1 p.Tyr141His (p.Y141H)
(
ENST00000320868.9,
ENST00000397797.1 )
HBA1 p.Tyr141His (p.Y141H) ( ENST00000320868.9, ENST00000397797.1 ) - Associated Disease
- Erythrocytosis, familial, 7
- Source Database
- ClinVar
- Description
- NM_000558.5(HBA1):c.421T>C (p.Tyr141His) AND Erythrocytosis, familial, 7
- ClinVar Allele ID
- 30895
- ClinVar RefSeq Alternation Syntax
- NM_000558.5:c.421T>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1992-01-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000641245
- ClinVar Disease
- Erythrocytosis, familial, 7
- Observed Origin Sample
- germline
- Pubmed
- 1390944
- Pubmed
- 1428951
Drugs