Annotation Detail
Information
- Associated Genes
- PPARG
- Associated Variants
-
PPARG p.Pro113Gln (p.P113Q)
(
ENST00000287820.10,
ENST00000309576.11,
ENST00000397000.6,
ENST00000397010.7,
ENST00000397015.7,
ENST00000397026.7,
ENST00000643197.2,
ENST00000643888.2,
ENST00000644622.2,
ENST00000651735.1,
ENST00000652098.1,
ENST00000652431.1,
ENST00000681982.1,
ENST00000682446.1,
ENST00000683586.1,
ENST00000683699.1 )
PPARG p.Pro113Gln (p.P113Q) ( ENST00000287820.10, ENST00000309576.11, ENST00000397000.6, ENST00000397010.7, ENST00000397015.7, ENST00000397026.7, ENST00000643197.2, ENST00000643888.2, ENST00000644622.2, ENST00000651735.1, ENST00000652098.1, ENST00000652431.1, ENST00000681982.1, ENST00000682446.1, ENST00000683586.1, ENST00000683699.1 ) - Associated Disease
- morbid obesity
- Source Database
- ClinVar
- Description
- NM_138711.6(PPARG):c.248C>A (p.Pro83Gln) AND Morbid obesity
- ClinVar Allele ID
- 23169
- ClinVar RefSeq Alternation Syntax
- NM_001354667.3:c.248C>A
- ClinVar RefSeq Alternation Syntax
- NM_005037.7:c.248C>A
- ClinVar RefSeq Alternation Syntax
- NM_001374264.2:c.248C>A
- ClinVar RefSeq Alternation Syntax
- NM_001374265.1:c.338C>A
- ClinVar RefSeq Alternation Syntax
- NM_001374266.1:c.254C>A
- ClinVar RefSeq Alternation Syntax
- NM_001330615.4:c.248C>A
- ClinVar RefSeq Alternation Syntax
- NM_001354669.2:c.-180C>A
- ClinVar RefSeq Alternation Syntax
- NM_001354670.2:c.254C>A
- ClinVar RefSeq Alternation Syntax
- NM_001374262.3:c.248C>A
- ClinVar RefSeq Alternation Syntax
- NM_015869.5:c.338C>A
- ClinVar RefSeq Alternation Syntax
- NM_001354668.2:c.338C>A
- ClinVar RefSeq Alternation Syntax
- NM_001374263.2:c.248C>A
- ClinVar RefSeq Alternation Syntax
- NM_138712.5:c.248C>A
- ClinVar RefSeq Alternation Syntax
- NM_001374261.3:c.248C>A
- ClinVar RefSeq Alternation Syntax
- NM_001354666.3:c.248C>A
- ClinVar RefSeq Alternation Syntax
- NM_138711.6:c.248C>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1999-12-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000008603
- ClinVar Disease
- Morbid obesity
- Observed Origin Sample
- germline
- Pubmed
- 10690291
- Pubmed
- 9753710
Drugs