Annotation Detail

Information
Associated Genes
HNF1A
Associated Variants
HNF1A p.Thr156Met (p.T156M) ( ENST00000541395.5, ENST00000257555.11, ENST00000400024.6, ENST00000544413.2 )
HNF1A p.Thr156Met (p.T156M) ( ENST00000257555.11, ENST00000400024.6, ENST00000541395.5, ENST00000544413.2 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_000545.8(HNF1A):c.467C>T (p.Thr156Met) AND not provided
ClinVar Allele ID
45483
ClinVar RefSeq Alternation Syntax
NM_000545.8:c.467C>T
ClinVar RefSeq Alternation Syntax
NM_001306179.2:c.467C>T
Clinical Significance Description
Uncertain significance
Clinical Significance Last Update
2022-03-30
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV002513266
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs