Annotation Detail
Information
- Associated Genes
- HBB LOC107133510 LOC110006319
- Associated Variants
-
HBB p.Val110Met (p.V110M)
(
ENST00000335295.4,
ENST00000647020.1 )
HBB p.Val110Met (p.V110M) ( ENST00000335295.4, ENST00000647020.1 ) - Associated Disease
- Erythrocytosis, familial, 6
- Source Database
- ClinVar
- Description
- NM_000518.5(HBB):c.328G>A (p.Val110Met) AND Erythrocytosis, familial, 6
- ClinVar Allele ID
- 30381
- ClinVar RefSeq Alternation Syntax
- NM_000518.5:c.328G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1995-01-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000641606
- ClinVar Disease
- Erythrocytosis, familial, 6
- Observed Origin Sample
- germline
- Pubmed
- 2703368
- Pubmed
- 7615400
- Pubmed
- 4808644
- Pubmed
- 7204093
Drugs