Annotation Detail

Information

Associated Genes: PPARG
Associated Variants: PPARG p.Pro40Ala (p.P40A) ( 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.Pro40Ala (p.P40A) ( 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: Diabetes mellitus, noninsulin-dependent, modifier of
Source Database: ClinVar
Description: NM_138711.6(PPARG):c.28C>G (p.Pro10Ala) AND Diabetes mellitus, noninsulin-dependent, modifier of
ClinVar Allele ID: 23170
ClinVar RefSeq Alternation Syntax: NM_001354670.2:c.34C>G
ClinVar RefSeq Alternation Syntax: NM_001374262.3:c.28C>G
ClinVar RefSeq Alternation Syntax: NM_001374263.2:c.28C>G
ClinVar RefSeq Alternation Syntax: NM_001354669.2:c.-400C>G
ClinVar RefSeq Alternation Syntax: NM_001354666.3:c.28C>G
ClinVar RefSeq Alternation Syntax: NM_001374261.3:c.28C>G
ClinVar RefSeq Alternation Syntax: NM_138711.6:c.28C>G
ClinVar RefSeq Alternation Syntax: NM_005037.7:c.28C>G
ClinVar RefSeq Alternation Syntax: NM_001374264.2:c.28C>G
ClinVar RefSeq Alternation Syntax: NM_015869.5:c.118C>G
ClinVar RefSeq Alternation Syntax: NM_001374266.1:c.34C>G
ClinVar RefSeq Alternation Syntax: NM_001374265.1:c.118C>G
ClinVar RefSeq Alternation Syntax: NM_001330615.4:c.28C>G
ClinVar RefSeq Alternation Syntax: NM_138712.5:c.28C>G
ClinVar RefSeq Alternation Syntax: NM_001354668.2:c.118C>G
ClinVar RefSeq Alternation Syntax: NM_001354667.3:c.28C>G
Clinical Significance Description: risk factor
Clinical Significance Last Update: 2007-06-01
Clinical Significance Review Status: no assertion criteria provided
URL: https://www.ncbi.nlm.nih.gov/clinvar/RCV000008604
ClinVar Disease: Diabetes mellitus, noninsulin-dependent, modifier of
Observed Origin Sample: germline
Pubmed: 15562023
Pubmed: 14569127
Pubmed: 11158005
Pubmed: 17213274
Pubmed: 15367918
Pubmed: 10523018
Pubmed: 12161548
Pubmed: 10843155
Pubmed: 17463249
Pubmed: 17463246
Pubmed: 17463248
Pubmed: 9425261
Pubmed: 10843190
Pubmed: 12096349
Pubmed: 10973253
Pubmed: 9918859
Pubmed: 11836319
Pubmed: 12679463
Pubmed: 14671186
Pubmed: 9806549
Pubmed: 9792554
Pubmed: 15562396
Pubmed: 12524541
Pubmed: 15356014
Pubmed: 14506127
Pubmed: 12974743
Pubmed: 16822823
Pubmed: 10364535
Pubmed: 15797964

Drugs