Full data view for gene HNF1A

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

22 entries on 1 page. Showing entries 1 - 22.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ 2 c.347C>T r.(?) p.(Ala116Val) Unknown - pathogenic g.121426656C>T g.120988853C>T - - HNF1A_000253 - PubMed: Bellanne-Chantelot 2008; Klupa 2002. Diabetes Care, 25:2292-2301; Ng 2001 Diabetes Care, 24:663-671. - - Germline - - - 0 - DNA SEQ - - MODY - PubMed: Bellanne-Chantelot 2008; Klupa 2002. Diabetes Care, 25:2292-2301; Ng 2001 Diabetes Care, 24:663-671. Diabetes diagnosed aged 13 years F - Canada Hispanic - 0 - - 1 Kevin Colclough
+/+ 2 c.347C>T r.(?) p.(Ala116Val) Unknown - pathogenic g.121426656C>T g.120988853C>T - - HNF1A_000253 - PubMed: Bellanne-Chantelot 2008; Klupa 2002. Diabetes Care, 25:2292-2301; Ng 2001 Diabetes Care, 24:663-671. - - Germline - - - 0 - DNA SEQ - - MODY - PubMed: Bellanne-Chantelot 2008; Klupa 2002. Diabetes Care, 25:2292-2301; Ng 2001 Diabetes Care, 24:663-671. Diabetes diagnosed aged 25 years F - Canada Hispanic - 0 - - 1 Kevin Colclough
+/+ 2 c.347C>T r.(?) p.(Ala116Val) Unknown - pathogenic g.121426656C>T g.120988853C>T - - HNF1A_000253 - PubMed: Bellanne-Chantelot 2008; Klupa 2002. Diabetes Care, 25:2292-2301; Ng 2001 Diabetes Care, 24:663-671. - - Germline - - - 0 - DNA SEQ - - MODY - PubMed: Bellanne-Chantelot 2008; Klupa 2002. Diabetes Care, 25:2292-2301; Ng 2001 Diabetes Care, 24:663-671. Diabetes diagnosed aged 19 years F - Wales white - 0 - - 1 Kevin Colclough
+/+ 2 c.347C>T r.(?) p.(Ala116Val) Unknown - pathogenic g.121426656C>T g.120988853C>T - - HNF1A_000253 - PubMed: Bellanne-Chantelot 2008; Klupa 2002. Diabetes Care, 25:2292-2301; Ng 2001 Diabetes Care, 24:663-671. - - Germline - - - 0 - DNA SEQ - - MODY - PubMed: Bellanne-Chantelot 2008; Klupa 2002. Diabetes Care, 25:2292-2301; Ng 2001 Diabetes Care, 24:663-671. Diabetes diagnosed aged 49 years M - United Kingdom (Great Britain) white - 0 - - 1 Kevin Colclough
+/+ 2 c.347C>T r.(?) p.(Ala116Val) Unknown - pathogenic g.121426656C>T g.120988853C>T - - HNF1A_000253 - PubMed: Bellanne-Chantelot 2008; Klupa 2002. Diabetes Care, 25:2292-2301; Ng 2001 Diabetes Care, 24:663-671. - - Germline - - - 0 - DNA SEQ - - MODY - PubMed: Bellanne-Chantelot 2008; Klupa 2002. Diabetes Care, 25:2292-2301; Ng 2001 Diabetes Care, 24:663-671. Diabetes diagnosed aged 27 years M - United Kingdom (Great Britain) white - 0 - - 1 Kevin Colclough
+/+ 2 c.347C>T r.(?) p.(Ala116Val) Unknown - pathogenic g.121426656C>T g.120988853C>T - - HNF1A_000253 - PubMed: Bellanne-Chantelot 2008; Klupa 2002. Diabetes Care, 25:2292-2301; Ng 2001 Diabetes Care, 24:663-671. - - Germline - - - 0 - DNA SEQ - - MODY - PubMed: Bellanne-Chantelot 2008; Klupa 2002. Diabetes Care, 25:2292-2301; Ng 2001 Diabetes Care, 24:663-671. Diabetes diagnosed aged 16 years F - United Kingdom (Great Britain) white - 0 - - 1 Kevin Colclough
+/+ 2 c.347C>T r.(?) p.(Ala116Val) Unknown - pathogenic g.121426656C>T g.120988853C>T - - HNF1A_000253 - PubMed: Bellanne-Chantelot 2008; Klupa 2002. Diabetes Care, 25:2292-2301; Ng 2001 Diabetes Care, 24:663-671. - - Germline - - - 0 - DNA SEQ - - MODY - PubMed: Bellanne-Chantelot 2008; Klupa 2002. Diabetes Care, 25:2292-2301; Ng 2001 Diabetes Care, 24:663-671. Diabetes diagnosed aged 17 years M - United Kingdom (Great Britain) white - 0 - - 1 Kevin Colclough
+/+ 2 c.347C>T r.(?) p.(Ala116Val) Unknown - pathogenic g.121426656C>T g.120988853C>T - - HNF1A_000253 - PubMed: Bellanne-Chantelot 2008; Klupa 2002. Diabetes Care, 25:2292-2301; Ng 2001 Diabetes Care, 24:663-671. - - Germline - - - 0 - DNA SEQ - - MODY - PubMed: Bellanne-Chantelot 2008; Klupa 2002. Diabetes Care, 25:2292-2301; Ng 2001 Diabetes Care, 24:663-671. Diabetes diagnosed aged 24 years M - United Kingdom (Great Britain) white - 0 - - 1 Kevin Colclough
+/+ 2 c.347C>T r.(?) p.(Ala116Val) Unknown - pathogenic g.121426656C>T g.120988853C>T - - HNF1A_000253 - PubMed: Bellanne-Chantelot 2008; Klupa 2002. Diabetes Care, 25:2292-2301; Ng 2001 Diabetes Care, 24:663-671. - - Germline - - - 0 - DNA SEQ - - MODY - PubMed: Bellanne-Chantelot 2008; Klupa 2002. Diabetes Care, 25:2292-2301; Ng 2001 Diabetes Care, 24:663-671. Diabetes diagnosed aged 23 years M - United Kingdom (Great Britain) white - 0 - - 1 Kevin Colclough
+/+ 2 c.347C>T r.(?) p.(Ala116Val) Unknown - pathogenic g.121426656C>T g.120988853C>T - - HNF1A_000253 - PubMed: Bellanne-Chantelot 2008; Klupa 2002. Diabetes Care, 25:2292-2301; Ng 2001 Diabetes Care, 24:663-671. - - Germline - - - 0 - DNA SEQ - - MODY - PubMed: Bellanne-Chantelot 2008; Klupa 2002. Diabetes Care, 25:2292-2301; Ng 2001 Diabetes Care, 24:663-671. - F - United Kingdom (Great Britain) white - 0 - - 1 Kevin Colclough
+/+ 2 c.347C>T r.(?) p.(Ala116Val) Unknown - pathogenic g.121426656C>T g.120988853C>T - - HNF1A_000253 - PubMed: Bellanne-Chantelot 2008; Klupa 2002. Diabetes Care, 25:2292-2301; Ng 2001 Diabetes Care, 24:663-671. - - Germline - - - 0 - DNA SEQ - - MODY - PubMed: Bellanne-Chantelot 2008; Klupa 2002. Diabetes Care, 25:2292-2301; Ng 2001 Diabetes Care, 24:663-671. Diabetes diagnosed aged 13 years F - Canada white - 0 - - 1 Kevin Colclough
+/+ 2 c.347C>T r.(?) p.(Ala116Val) Unknown - pathogenic g.121426656C>T g.120988853C>T - - HNF1A_000253 - PubMed: Bellanne-Chantelot 2008; Klupa 2002. Diabetes Care, 25:2292-2301; Ng 2001 Diabetes Care, 24:663-671. - - Germline - - - 0 - DNA SEQ - - MODY - PubMed: Bellanne-Chantelot 2008; Klupa 2002. Diabetes Care, 25:2292-2301; Ng 2001 Diabetes Care, 24:663-671. Diabetes diagnosed aged 14 years F - United Kingdom (Great Britain) white - 0 - - 1 Kevin Colclough
+/+ 2 c.347C>T r.(?) p.(Ala116Val) Unknown - pathogenic g.121426656C>T g.120988853C>T - - HNF1A_000253 - PubMed: Bellanne-Chantelot 2008; Klupa 2002. Diabetes Care, 25:2292-2301; Ng 2001 Diabetes Care, 24:663-671. - - Germline - - - 0 - DNA SEQ - - MODY - PubMed: Bellanne-Chantelot 2008; Klupa 2002. Diabetes Care, 25:2292-2301; Ng 2001 Diabetes Care, 24:663-671. Diabetes diagnosed aged 20 years M - United Kingdom (Great Britain) white - 0 - - 1 Kevin Colclough
+/+ 2 c.347C>T r.(?) p.(Ala116Val) Unknown - pathogenic g.121426656C>T g.120988853C>T - - HNF1A_000253 - PubMed: Bellanne-Chantelot 2008; Klupa 2002. Diabetes Care, 25:2292-2301; Ng 2001 Diabetes Care, 24:663-671. - - Germline - - - 0 - DNA SEQ - - MODY - PubMed: Bellanne-Chantelot 2008; Klupa 2002. Diabetes Care, 25:2292-2301; Ng 2001 Diabetes Care, 24:663-671. Diabetes diagnosed aged 26 years F - United Kingdom (Great Britain) white - 0 - - 1 Kevin Colclough
+/+ 2 c.347C>T r.(?) p.(Ala116Val) Unknown - pathogenic g.121426656C>T g.120988853C>T - - HNF1A_000253 - PubMed: Bellanne-Chantelot 2008; Klupa 2002. Diabetes Care, 25:2292-2301; Ng 2001 Diabetes Care, 24:663-671. - - Germline - - - 0 - DNA SEQ - - MODY - PubMed: Bellanne-Chantelot 2008; Klupa 2002. Diabetes Care, 25:2292-2301; Ng 2001 Diabetes Care, 24:663-671. Diabetes diagnosed aged 42 years M - United Kingdom (Great Britain) white - 0 - - 1 Kevin Colclough
+/+ 2 c.347C>T r.(?) p.(Ala116Val) Unknown - pathogenic g.121426656C>T g.120988853C>T - - HNF1A_000253 - PubMed: Bellanne-Chantelot 2008; Klupa 2002. Diabetes Care, 25:2292-2301; Ng 2001 Diabetes Care, 24:663-671. - - Germline - - - 0 - DNA SEQ - - MODY - PubMed: Bellanne-Chantelot 2008; Klupa 2002. Diabetes Care, 25:2292-2301; Ng 2001 Diabetes Care, 24:663-671. Diabetes diagnosed aged 11 years F - United Kingdom (Great Britain) white - 0 - - 1 Kevin Colclough
+/+ 2 c.347C>T r.(?) p.(Ala116Val) Unknown - pathogenic g.121426656C>T g.120988853C>T - - HNF1A_000253 - PubMed: Bellanne-Chantelot 2008; Klupa 2002. Diabetes Care, 25:2292-2301; Ng 2001 Diabetes Care, 24:663-671. - - Germline - - - 0 - DNA SEQ - - MODY - PubMed: Bellanne-Chantelot 2008; Klupa 2002. Diabetes Care, 25:2292-2301; Ng 2001 Diabetes Care, 24:663-671. Diabetes diagnosed aged 17 years F - United Kingdom (Great Britain) white - 0 - - 1 Kevin Colclough
+/+ 2 c.347C>T r.(?) p.(Ala116Val) Unknown - pathogenic g.121426656C>T g.120988853C>T - - HNF1A_000253 - PubMed: Bellanne-Chantelot 2008; Klupa 2002. Diabetes Care, 25:2292-2301; Ng 2001 Diabetes Care, 24:663-671. - - Germline - - - 0 - DNA SEQ - - MODY - PubMed: Bellanne-Chantelot 2008; Klupa 2002. Diabetes Care, 25:2292-2301; Ng 2001 Diabetes Care, 24:663-671. Diabetes diagnosed aged 25 years F - United Kingdom (Great Britain) white - 0 - - 1 Kevin Colclough
+/+ 2 c.347C>T r.(?) p.(Ala116Val) Unknown - pathogenic g.121426656C>T g.120988853C>T - - HNF1A_000253 - PubMed: Bellanne-Chantelot 2008; Klupa 2002. Diabetes Care, 25:2292-2301; Ng 2001 Diabetes Care, 24:663-671. - - Germline - - - 0 - DNA SEQ - - MODY - PubMed: Bellanne-Chantelot 2008; Klupa 2002. Diabetes Care, 25:2292-2301; Ng 2001 Diabetes Care, 24:663-671. Diabetes diagnosed aged 17 years F - United Kingdom (Great Britain) white - 0 - - 1 Kevin Colclough
+/+ 2 c.347C>T r.(?) p.(Ala116Val) Unknown - pathogenic g.121426656C>T g.120988853C>T - - HNF1A_000253 - PubMed: Bellanne-Chantelot 2008; Klupa 2002. Diabetes Care, 25:2292-2301; Ng 2001 Diabetes Care, 24:663-671. - - Germline - - - 0 - DNA SEQ - - MODY - PubMed: Bellanne-Chantelot 2008; Klupa 2002. Diabetes Care, 25:2292-2301; Ng 2001 Diabetes Care, 24:663-671. Diabetes diagnosed aged 19 years M - United Kingdom (Great Britain) white - 0 - - 1 Kevin Colclough
+/+ 2 c.347C>T r.(?) p.(Ala116Val) Unknown - pathogenic g.121426656C>T g.120988853C>T - - HNF1A_000253 - PubMed: Bellanne-Chantelot 2008; Klupa 2002. Diabetes Care, 25:2292-2301; Ng 2001 Diabetes Care, 24:663-671. - - Germline - - - 0 - DNA SEQ - - MODY - PubMed: Bellanne-Chantelot 2008; Klupa 2002. Diabetes Care, 25:2292-2301; Ng 2001 Diabetes Care, 24:663-671. Diabetes diagnosed aged 14 years F - United Kingdom (Great Britain) white - 0 - - 1 Kevin Colclough
+/+ 2 c.347C>T r.(?) p.(Ala116Val) Unknown - pathogenic g.121426656C>T g.120988853C>T - - HNF1A_000253 - PubMed: Bellanne-Chantelot 2008; Klupa 2002. Diabetes Care, 25:2292-2301; Ng 2001 Diabetes Care, 24:663-671. - - Germline - - - 0 - DNA SEQ - - MODY - PubMed: Bellanne-Chantelot 2008; Klupa 2002. Diabetes Care, 25:2292-2301; Ng 2001 Diabetes Care, 24:663-671. Diabetes diagnosed aged 43 years M - United Kingdom (Great Britain) white - 0 - - 1 Kevin Colclough
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