Annotation Detail
Information
- Associated Genes
- HBB LOC107133510 LOC110006319
- Associated Variants
-
HBB p.Val127Ala (p.V127A)
(
ENST00000647020.1,
ENST00000335295.4 )
HBB p.Val127Ala (p.V127A) ( ENST00000335295.4, ENST00000647020.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000518.5(HBB):c.380T>C (p.Val127Ala) AND not provided
- ClinVar Allele ID
- 30145
- ClinVar RefSeq Alternation Syntax
- NM_000518.5:c.380T>C
- Clinical Significance Description
- Conflicting interpretations of pathogenicity
- Clinical Significance Last Update
- 2022-04-27
- Clinical Significance Review Status
- criteria provided, conflicting interpretations
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001284157
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs