Annotation Detail

Information

Associated Genes: HBB LOC106099062 LOC107133510
Associated Variants: HBB p.Val99Met (p.V99M) ( ENST00000647020.1, ENST00000335295.4, ENST00000485743.1 )
HBB p.Val99Met (p.V99M) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 )
Associated Disease: Heinz body anemia
Source Database: ClinVar
Description: NM_000518.5(HBB):c.295G>A (p.Val99Met) AND Heinz body anemia
ClinVar Allele ID: 30280
ClinVar RefSeq Alternation Syntax: NM_000518.5:c.295G>A
Clinical Significance Description: Pathogenic
Clinical Significance Last Update: 1995-03-01
Clinical Significance Review Status: no assertion criteria provided
URL: https://www.ncbi.nlm.nih.gov/clinvar/RCV000016446
ClinVar Disease: Heinz body anemia
Observed Origin Sample: germline
Pubmed: 4414970
Pubmed: 6050213
Pubmed: 7864023
Pubmed: 4514958
Pubmed: 6029950
Pubmed: 5856115
Pubmed: 4942314
Pubmed: 5079107
Pubmed: 6067323
Pubmed: 14198723
Pubmed: 5881530
Pubmed: 88735
Pubmed: 3768534

Drugs