Annotation Detail
Information
- Associated Genes
- HBB LOC106099062 LOC107133510
- Associated Variants
-
HBB p.His93Tyr (p.H93Y)
(
ENST00000485743.1,
ENST00000335295.4,
ENST00000647020.1 )
HBB p.His93Tyr (p.H93Y) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 ) - Associated Disease
- Methemoglobinemia, beta-globin type
- Source Database
- ClinVar
- Description
- NM_000518.4(HBB):c.277C>T (p.His93Tyr) AND Methemoglobinemia, beta-globin type
- ClinVar Allele ID
- 30294
- ClinVar RefSeq Alternation Syntax
- NM_000518.5:c.277C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1998-01-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000641516
- ClinVar Disease
- Methemoglobinemia, beta-globin type
- Observed Origin Sample
- germline
- Pubmed
- 13665153
- Pubmed
- 933112
- Pubmed
- 9494043
- Pubmed
- 5669922
- Pubmed
- 5900783
- Pubmed
- 1398295
- Pubmed
- 3377987
Drugs