Annotation Detail
Information
- Associated Genes
- HBB LOC106099062 LOC107133510
- Associated Variants
-
HBB p.? (p.?)
(
ENST00000647020.1,
ENST00000485743.1,
ENST00000335295.4 )
HBB p.? (p.?) ( ENST00000485743.1, ENST00000647020.1, ENST00000335295.4 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000518.5(HBB):c.2T>A (p.Met1Lys) AND not provided
- ClinVar Allele ID
- 487518
- ClinVar RefSeq Alternation Syntax
- NM_000518.5:c.2T>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2018-08-31
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000985744
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs