Annotation Detail
Information
- Associated Genes
- HNF1A
- Associated Variants
-
HNF1A p.Val173_Gln176delinsGlu (p.V173_Q176delinsE)
(
ENST00000544413.2,
ENST00000257555.11,
ENST00000400024.6,
ENST00000541395.5 )
HNF1A p.Val173_Gln176delinsGlu (p.V173_Q176delinsE) ( ENST00000257555.11, ENST00000400024.6, ENST00000541395.5, ENST00000544413.2 ) - Associated Disease
- Maturity onset diabetes mellitus in young
- Source Database
- ClinVar
- Description
- NM_000545.8(HNF1A):c.518_526+37del AND Maturity onset diabetes mellitus in young
- ClinVar Allele ID
- 45484
- ClinVar RefSeq Alternation Syntax
- NM_000545.8:c.518_526+37del
- ClinVar RefSeq Alternation Syntax
- NM_001306179.2:c.518_526+37del
- Clinical Significance Description
- Likely risk allele
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002319432
- ClinVar Disease
- Maturity onset diabetes mellitus in young
- Observed Origin Sample
- unknown
Drugs