Annotation Detail
Information
- Associated Genes
- APOE
- Associated Variants
-
APOE p.Arg163Pro (p.R163P)
(
ENST00000252486.9 )
APOE p.Arg163Pro (p.R163P) ( ENST00000252486.9 ) - Associated Disease
- Lipoprotein glomerulopathy
- Source Database
- ClinVar
- Description
- NM_000041.4(APOE):c.488G>C (p.Arg163Pro) AND Lipoprotein glomerulopathy
- ClinVar Allele ID
- 32918
- ClinVar RefSeq Alternation Syntax
- NM_000041.4:c.488G>C
- ClinVar RefSeq Alternation Syntax
- NM_001302688.2:c.566G>C
- ClinVar RefSeq Alternation Syntax
- NM_001302689.2:c.488G>C
- ClinVar RefSeq Alternation Syntax
- NM_001302690.2:c.488G>C
- ClinVar RefSeq Alternation Syntax
- NM_001302691.2:c.488G>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2000-10-06
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000019466
- ClinVar Disease
- Lipoprotein glomerulopathy
- Observed Origin Sample
- germline
- Pubmed
- 9176854
- Pubmed
- 10903326
Drugs