Annotation Detail
Information
- Associated Genes
- HP
- Associated Variants
-
HP c.-91A>C
(
ENST00000355906.10 )
HP c.-91A>C ( ENST00000355906.10 ) - Associated Disease
- Anhaptoglobinemia
- Source Database
- ClinVar
- Description
- NM_005143.5(HP):c.-91A>C AND Anhaptoglobinemia
- ClinVar Allele ID
- 30940
- ClinVar RefSeq Alternation Syntax
- NM_001126102.3:c.-91A>C
- ClinVar RefSeq Alternation Syntax
- NM_001318138.2:c.-91A>C
- ClinVar RefSeq Alternation Syntax
- NM_005143.5:c.-91A>C
- Clinical Significance Description
- Affects
- Clinical Significance Last Update
- 2003-11-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000017248
- ClinVar Disease
- Anhaptoglobinemia
- Observed Origin Sample
- germline
- Pubmed
- 14616769
Drugs