Annotation Detail
Information
- Associated Genes
- HBB LOC106099062 LOC107133510
- Associated Variants
-
HBB p.Glu44Gln (p.E44Q)
(
ENST00000335295.4,
ENST00000485743.1,
ENST00000647020.1 )
HBB p.Glu44Gln (p.E44Q) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_000518.4(HBB):c.130G>C (p.Glu44Gln) AND not specified
- ClinVar Allele ID
- 30242
- ClinVar RefSeq Alternation Syntax
- NM_000518.5:c.130G>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2017-12-12
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000016387
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
- Pubmed
- 701082
- Pubmed
- 1814859
- Pubmed
- 6998928
Drugs