Annotation Detail
Information
- Associated Genes
- HBB LOC107133510 LOC110006319
- Associated Variants
-
HBB p.Leu111Pro (p.L111P)
(
ENST00000647020.1,
ENST00000335295.4 )
HBB p.Leu111Pro (p.L111P) ( ENST00000335295.4, ENST00000647020.1 ) - Associated Disease
- Beta-Showa-Yakushiji thalassemia
- Source Database
- ClinVar
- Description
- NM_000518.4(HBB):c.332T>C (p.Leu111Pro) AND Beta-Showa-Yakushiji thalassemia
- ClinVar Allele ID
- 30391
- ClinVar RefSeq Alternation Syntax
- NM_000518.5:c.332T>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2005-01-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000016600
- ClinVar Disease
- Beta-Showa-Yakushiji thalassemia
- Observed Origin Sample
- germline
- Pubmed
- 2822177
- Pubmed
- 3417300
- Pubmed
- 15768552
Drugs