Annotation Detail

Information
Associated Genes
AGT
Associated Variants
AGT p.Met259Thr (p.M259T) ( ENST00000679957.1, ENST00000681514.1, ENST00000680041.1, ENST00000680783.1, ENST00000681269.1, ENST00000679684.1, ENST00000366667.6 )
AGT p.Met259Thr (p.M259T) ( ENST00000366667.6, ENST00000679684.1, ENST00000679957.1, ENST00000680041.1, ENST00000680783.1, ENST00000681269.1, ENST00000681514.1 )
Associated Disease
Susceptibility to progression to renal failure in IgA nephropathy
Source Database
ClinVar
Description
NM_000029.4(AGT):c.803T>C (p.Met268Thr) AND Susceptibility to progression to renal failure in IgA nephropathy
ClinVar Allele ID
33107
Clinical Significance Description
risk factor
Clinical Significance Last Update
2005-01-01
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000019693
ClinVar Disease
Susceptibility to progression to renal failure in IgA nephropathy
Observed Origin Sample
germline
Pubmed
7649545
Pubmed
16059745
Pubmed
8518804
Pubmed
9831339
Pubmed
9421481
Pubmed
1394429
Pubmed
7883995
Pubmed
9259580
Pubmed
8348146
Pubmed
8513325
Drugs