Annotation Detail
Information
- Associated Genes
- HBB LOC106099062 LOC107133510
- Associated Variants
-
HBB p.Leu29Gln (p.L29Q)
(
ENST00000647020.1,
ENST00000485743.1,
ENST00000335295.4 )
HBB p.Leu29Gln (p.L29Q) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 ) - Associated Disease
- Heinz body anemia
- Source Database
- ClinVar
- Description
- NM_000518.4(HBB):c.86T>A (p.Leu29Gln) AND Heinz body anemia
- ClinVar Allele ID
- 30400
- ClinVar RefSeq Alternation Syntax
- NM_000518.5:c.86T>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1986-01-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000016612
- ClinVar Disease
- Heinz body anemia
- Observed Origin Sample
- germline
- Pubmed
- 3557999
- Pubmed
- 186485
- Pubmed
- 4808645
- Pubmed
- 4281476
Drugs