Annotation Detail
Information
- Associated Genes
- HNF1A
- Associated Variants
-
HNF1A p.Ile27Leu (p.I27L)
(
ENST00000541395.5,
ENST00000257555.11,
ENST00000400024.6,
ENST00000544413.2 )
HNF1A p.Ile27Leu (p.I27L) ( ENST00000257555.11, ENST00000400024.6, ENST00000541395.5, ENST00000544413.2 ) - Associated Disease
- Insulin resistance, susceptibility to
- Source Database
- ClinVar
- Description
- NM_000545.8(HNF1A):c.79A>C (p.Ile27Leu) AND Insulin resistance, susceptibility to
- ClinVar Allele ID
- 29976
- ClinVar RefSeq Alternation Syntax
- NM_000545.8:c.79A>C
- ClinVar RefSeq Alternation Syntax
- NM_001306179.2:c.79A>C
- Clinical Significance Description
- risk factor
- Clinical Significance Last Update
- 2003-06-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000016074
- ClinVar Disease
- Insulin resistance, susceptibility to
- Observed Origin Sample
- germline
- Pubmed
- 12788852
- Pubmed
- 10852449
Drugs