Annotation Detail
Information
- Associated Genes
- HNF1B
- Associated Variants
-
NM_000458.4(HNF1B):c.544+1391T>C AND Maturity onset diabetes mellitus in young
HNF1B c.544+1391T>C ( ENST00000613727.4, ENST00000614313.4, ENST00000617811.5, ENST00000621123.4 ) - Associated Disease
- Maturity onset diabetes mellitus in young
- Source Database
- ClinVar
- Description
- NM_000458.4(HNF1B):c.544+1391T>C AND Maturity onset diabetes mellitus in young
- ClinVar Allele ID
- 1679914
- ClinVar RefSeq Alternation Syntax
- NM_001165923.4:c.544+1391T>C
- ClinVar RefSeq Alternation Syntax
- NM_000458.4:c.544+1391T>C
- ClinVar RefSeq Alternation Syntax
- NM_001304286.2:c.544+1391T>C
- Clinical Significance Description
- Benign
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002251304
- ClinVar Disease
- Maturity onset diabetes mellitus in young
- Observed Origin Sample
- somatic
Drugs