Annotation Detail
Information
- Associated Genes
- HNF1A
- Associated Variants
-
HNF1A p.His147Gln (p.H147Q)
(
ENST00000541395.5,
ENST00000544413.2,
ENST00000400024.6,
ENST00000257555.11 )
HNF1A p.His147Gln (p.H147Q) ( 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.441C>A (p.His147Gln) AND Maturity onset diabetes mellitus in young
- ClinVar Allele ID
- 45482
- ClinVar RefSeq Alternation Syntax
- NM_001306179.2:c.441C>A
- ClinVar RefSeq Alternation Syntax
- NM_000545.8:c.441C>A
- Clinical Significance Description
- Uncertain risk allele
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002319431
- ClinVar Disease
- Maturity onset diabetes mellitus in young
- Observed Origin Sample
- unknown
Drugs