Annotation Detail
Information
- Associated Genes
- APOE
- Associated Variants
-
APOE p.Arg43Cys (p.R43C)
(
ENST00000252486.9 )
APOE p.Arg43Cys (p.R43C) ( ENST00000252486.9 ) - Associated Disease
- Lipoprotein glomerulopathy
- Source Database
- ClinVar
- Description
- NM_000041.4(APOE):c.127C>T (p.Arg43Cys) AND Lipoprotein glomerulopathy
- ClinVar Allele ID
- 32919
- ClinVar RefSeq Alternation Syntax
- NM_001302690.2:c.127C>T
- ClinVar RefSeq Alternation Syntax
- NM_001302689.2:c.127C>T
- ClinVar RefSeq Alternation Syntax
- NM_001302691.2:c.127C>T
- ClinVar RefSeq Alternation Syntax
- NM_001302688.2:c.205C>T
- ClinVar RefSeq Alternation Syntax
- NM_000041.4:c.127C>T
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000019468
- ClinVar Disease
- Lipoprotein glomerulopathy
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 10432380
- Pubmed
- 18077821
Drugs