All variants in the HNF1A gene

Information The variants shown are described using the NM_000545.5 transcript reference sequence.

1 entry on 1 page. Showing entry 1.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+?/. 2 c.376C>G r.(?) p.(His126Asp) - likely pathogenic (dominant) g.121426685C>G g.120988882C>G - - HNF1A_000416 - - - - Germline yes - - 0 - Clara Tan
Legend   How to query