Annotation Detail
Information
- Associated Genes
- HBB LOC106099062 LOC107133510
- Associated Variants
-
HBB p.? (p.?)
(
ENST00000647020.1,
ENST00000485743.1,
ENST00000335295.4 )
HBB p.? (p.?) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 ) - Associated Disease
- Beta-thalassemia, lermontov type
- Source Database
- ClinVar
- Description
- NM_000518.5(HBB):c.2T>C (p.Met1Thr) AND Beta-thalassemia, lermontov type
- ClinVar Allele ID
- 44974
- ClinVar RefSeq Alternation Syntax
- NM_000518.5:c.2T>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1998-05-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000016693
- ClinVar Disease
- Beta-thalassemia, lermontov type
- Observed Origin Sample
- germline
- Pubmed
- 2272840
- Pubmed
- 9629504
- Pubmed
- 8094943
Drugs