Annotation Detail

Information
Associated Genes
HNF1A
Associated Variants
HNF1A p.Pro224Ser (p.P224S) ( ENST00000257555.11, ENST00000400024.6, ENST00000544413.2, ENST00000541395.5 )
HNF1A p.Pro224Ser (p.P224S) ( 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.670C>T (p.Pro224Ser) AND Maturity onset diabetes mellitus in young
ClinVar Allele ID
45487
ClinVar RefSeq Alternation Syntax
NM_000545.8:c.670C>T
ClinVar RefSeq Alternation Syntax
NM_001306179.2:c.670C>T
Clinical Significance Description
Likely risk allele
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV002326709
ClinVar Disease
Maturity onset diabetes mellitus in young
Observed Origin Sample
unknown
Drugs