Annotation Detail
Information
- Associated Genes
- PPARA
- Associated Variants
-
PPARA p.Leu162Val (p.L162V)
(
ENST00000402126.2,
ENST00000407236.6 )
PPARA p.Leu162Val (p.L162V) ( ENST00000402126.2, ENST00000407236.6 ) - Associated Disease
- Hyperapobetalipoproteinemia, susceptibility to
- Source Database
- ClinVar
- Description
- NM_005036.6(PPARA):c.484C>G (p.Leu162Val) AND Hyperapobetalipoproteinemia, susceptibility to
- ClinVar Allele ID
- 28740
- ClinVar RefSeq Alternation Syntax
- NM_001393944.1:c.484C>G
- ClinVar RefSeq Alternation Syntax
- NM_001393945.1:c.484C>G
- ClinVar RefSeq Alternation Syntax
- NM_001001928.4:c.484C>G
- ClinVar RefSeq Alternation Syntax
- NM_005036.6:c.484C>G
- ClinVar RefSeq Alternation Syntax
- NM_001393941.1:c.484C>G
- ClinVar RefSeq Alternation Syntax
- NM_001362872.2:c.484C>G
- ClinVar RefSeq Alternation Syntax
- NM_001362873.3:c.484C>G
- ClinVar RefSeq Alternation Syntax
- NM_001393946.1:c.484C>G
- ClinVar RefSeq Alternation Syntax
- NM_001393947.1:c.484C>G
- ClinVar RefSeq Alternation Syntax
- NM_001001929.3:c.484C>G
- ClinVar RefSeq Alternation Syntax
- NM_001393943.1:c.484C>G
- ClinVar RefSeq Alternation Syntax
- NM_001393942.1:c.484C>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2004-01-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000014700
- ClinVar Disease
- Hyperapobetalipoproteinemia, susceptibility to
- Observed Origin Sample
- germline
- Pubmed
- 15309680
- Pubmed
- 12006394
- Pubmed
- 10828087
Drugs