Annotation Detail
Information
- Associated Genes
- PPARG
- Associated Variants
-
PPARG p.Pro12Ala (p.P12A)
(
ENST00000309576.11,
ENST00000397010.7,
ENST00000397000.6,
ENST00000287820.10,
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.Pro12Ala (p.P12A) ( 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
- not provided
- Source Database
- ClinVar
- Description
- NM_138711.6(PPARG):c.-8-28078C>G AND not provided
- ClinVar Allele ID
- 135465
- ClinVar RefSeq Alternation Syntax
- NM_001374264.2:c.-8-28078C>G
- ClinVar RefSeq Alternation Syntax
- NM_001354666.3:c.-8-28078C>G
- ClinVar RefSeq Alternation Syntax
- NM_001374261.3:c.-8-28078C>G
- ClinVar RefSeq Alternation Syntax
- NM_015869.5:c.34C>G
- ClinVar RefSeq Alternation Syntax
- NM_001374262.3:c.-9+6732C>G
- ClinVar RefSeq Alternation Syntax
- NM_001330615.4:c.-8-28078C>G
- ClinVar RefSeq Alternation Syntax
- NM_001374266.1:c.-2-28078C>G
- ClinVar RefSeq Alternation Syntax
- NM_001354670.2:c.-2-28078C>G
- ClinVar RefSeq Alternation Syntax
- NM_138712.5:c.-8-28078C>G
- ClinVar RefSeq Alternation Syntax
- NM_001354668.2:c.34C>G
- ClinVar RefSeq Alternation Syntax
- NM_001354669.2:c.-435-28078C>G
- ClinVar RefSeq Alternation Syntax
- NM_001354667.3:c.-8-28078C>G
- ClinVar RefSeq Alternation Syntax
- NM_138711.6:c.-8-28078C>G
- ClinVar RefSeq Alternation Syntax
- NM_001374263.2:c.-8-28078C>G
- ClinVar RefSeq Alternation Syntax
- NM_001374265.1:c.34C>G
- ClinVar RefSeq Alternation Syntax
- NM_005037.7:c.-8-28078C>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-01-31
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001516919
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs