All variants in the HNF1A gene

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

11 entries on 1 page. Showing entries 1 - 11.
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     
+/+ 1 c.160C>T r.(?) p.(Arg54*) - pathogenic g.121416731C>T g.120978928C>T - - HNF1A_000220 - Lambert 2003. Diabetes Care, 26:333-337. - - Germline - - - 0 - Kevin Colclough
+/+ 1 c.160C>T r.(?) p.(Arg54*) - pathogenic g.121416731C>T g.120978928C>T - - HNF1A_000220 - Lambert 2003. Diabetes Care, 26:333-337. - - Germline - - - 0 - Kevin Colclough
+/+ 1 c.160C>T r.(?) p.(Arg54*) - pathogenic g.121416731C>T g.120978928C>T - - HNF1A_000220 - Lambert 2003. Diabetes Care, 26:333-337. - - Germline - - - 0 - Kevin Colclough
+/+ 1 c.160C>T r.(?) p.(Arg54*) - pathogenic g.121416731C>T g.120978928C>T - - HNF1A_000220 - Lambert 2003. Diabetes Care, 26:333-337. - - Germline - - - 0 - Kevin Colclough
+/+ 1 c.160C>T r.(?) p.(Arg54*) - pathogenic g.121416731C>T g.120978928C>T - - HNF1A_000220 - Lambert 2003. Diabetes Care, 26:333-337. - - Germline - - - 0 - Kevin Colclough
+/+ 1 c.160C>T r.(?) p.(Arg54*) - pathogenic g.121416731C>T g.120978928C>T - - HNF1A_000220 - Lambert 2003. Diabetes Care, 26:333-337. - - Germline - - - 0 - Kevin Colclough
+/+ 1 c.160C>T r.(?) p.(Arg54*) - pathogenic g.121416731C>T g.120978928C>T - - HNF1A_000220 - Lambert 2003. Diabetes Care, 26:333-337. - - Germline - - - 0 - Kevin Colclough
+/+ 1 c.160C>T r.(?) p.(Arg54*) - pathogenic g.121416731C>T g.120978928C>T - - HNF1A_000220 - Lambert 2003. Diabetes Care, 26:333-337. - - Germline - - - 0 - Kevin Colclough
+/+ 1 c.160C>T r.(?) p.(Arg54*) - pathogenic g.121416731C>T g.120978928C>T - - HNF1A_000220 - Lambert 2003. Diabetes Care, 26:333-337. - - Germline - - - 0 - Kevin Colclough
+/+ 1 c.160C>T r.(?) p.(Arg54*) - pathogenic g.121416731C>T g.120978928C>T - - HNF1A_000220 - Lambert 2003. Diabetes Care, 26:333-337. - - Germline - - - 0 - Kevin Colclough
+/+ 1 c.160C>T r.(?) p.(Arg54*) - pathogenic g.121416731C>T g.120978928C>T - - HNF1A_000220 - Lambert 2003. Diabetes Care, 26:333-337. - - Germline - - - 0 - Kevin Colclough
Legend   How to query