Full data view for gene HNF1A

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

14 entries on 1 page. Showing entries 1 - 14.
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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     
+/? 3 c.599G>A r.(?) p.(Arg200Gln) Unknown - pathogenic g.121431395G>A g.120993592G>A - - HNF1A_000134 - Hattersley 1998 - - Germline - - - - - DNA SEQ - - MODY - Hattersley 1998 - - - - - - - - - 1 Monique Losekoot
+/+ 3 c.599G>A r.(?) p.(Arg200Gln) Unknown - pathogenic g.121431395G>A g.120993592G>A - - HNF1A_000134 - M. Losekoot - - Germline - - - - - DNA SEQ - - MODY - M. Losekoot - - - - - - - - - 1 Monique Losekoot
+/+ 3 c.599G>A r.(?) p.(Arg200Gln) Unknown - pathogenic g.121431395G>A g.120993592G>A - - HNF1A_000134 - PubMed: Bellanne-Chantelot 2008; Hattersley. 1998. Diabetic Medicine, 15:5-24. - - Germline - - - - - DNA SEQ - - MODY - PubMed: Bellanne-Chantelot 2008; Hattersley. 1998. Diabetic Medicine, 15:5-24. Diabetes diagnosed aged 37 years F - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 3 c.599G>A r.(?) p.(Arg200Gln) Unknown - pathogenic g.121431395G>A g.120993592G>A - - HNF1A_000134 - PubMed: Bellanne-Chantelot 2008; Hattersley. 1998. Diabetic Medicine, 15:5-24. - - Germline - - - - - DNA SEQ - - MODY - PubMed: Bellanne-Chantelot 2008; Hattersley. 1998. Diabetic Medicine, 15:5-24. Diabetes diagnosed aged 25 years M - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 3 c.599G>A r.(?) p.(Arg200Gln) Unknown - pathogenic g.121431395G>A g.120993592G>A - - HNF1A_000134 - PubMed: Bellanne-Chantelot 2008; Hattersley. 1998. Diabetic Medicine, 15:5-24. - - Germline - - - - - DNA SEQ - - MODY - PubMed: Bellanne-Chantelot 2008; Hattersley. 1998. Diabetic Medicine, 15:5-24. Diabetes diagnosed aged 14 years M - Wales white - - - - 1 Kevin Colclough
+/+ 3 c.599G>A r.(?) p.(Arg200Gln) Unknown - pathogenic g.121431395G>A g.120993592G>A - - HNF1A_000134 - PubMed: Bellanne-Chantelot 2008; Hattersley. 1998. Diabetic Medicine, 15:5-24. - - Germline - - - - - DNA SEQ - - MODY - PubMed: Bellanne-Chantelot 2008; Hattersley. 1998. Diabetic Medicine, 15:5-24. Diabetes diagnosed aged 24 years F - Wales white - - - - 1 Kevin Colclough
+/+ 3 c.599G>A r.(?) p.(Arg200Gln) Unknown - pathogenic g.121431395G>A g.120993592G>A - - HNF1A_000134 - PubMed: Bellanne-Chantelot 2008; Hattersley. 1998. Diabetic Medicine, 15:5-24. - - Germline - - - - - DNA SEQ - - MODY - PubMed: Bellanne-Chantelot 2008; Hattersley. 1998. Diabetic Medicine, 15:5-24. Diabetes diagnosed aged 23 years F - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 3 c.599G>A r.(?) p.(Arg200Gln) Unknown - pathogenic g.121431395G>A g.120993592G>A - - HNF1A_000134 - PubMed: Bellanne-Chantelot 2008; Hattersley. 1998. Diabetic Medicine, 15:5-24. - - Germline - - - - - DNA SEQ - - MODY - PubMed: Bellanne-Chantelot 2008; Hattersley. 1998. Diabetic Medicine, 15:5-24. Diabetes diagnosed aged 29 years F - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 3 c.599G>A r.(?) p.(Arg200Gln) Unknown - pathogenic g.121431395G>A g.120993592G>A - - HNF1A_000134 - PubMed: Bellanne-Chantelot 2008; Hattersley. 1998. Diabetic Medicine, 15:5-24. - - Germline - - - - - DNA SEQ - - MODY - PubMed: Bellanne-Chantelot 2008; Hattersley. 1998. Diabetic Medicine, 15:5-24. Diabetes diagnosed aged 38 years F - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 3 c.599G>A r.(?) p.(Arg200Gln) Unknown - pathogenic g.121431395G>A g.120993592G>A - - HNF1A_000134 - PubMed: Bellanne-Chantelot 2008; Hattersley. 1998. Diabetic Medicine, 15:5-24. - - Germline - - - - - DNA SEQ - - MODY - PubMed: Bellanne-Chantelot 2008; Hattersley. 1998. Diabetic Medicine, 15:5-24. Diabetes diagnosed aged 58 years M - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 3 c.599G>A r.(?) p.(Arg200Gln) Unknown - pathogenic g.121431395G>A g.120993592G>A - - HNF1A_000134 - PubMed: Bellanne-Chantelot 2008; Hattersley. 1998. Diabetic Medicine, 15:5-24. - - Germline - - - - - DNA SEQ - - MODY - PubMed: Bellanne-Chantelot 2008; Hattersley. 1998. Diabetic Medicine, 15:5-24. Diabetes diagnosed aged 25 years M - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 3 c.599G>A r.(?) p.(Arg200Gln) Unknown - pathogenic g.121431395G>A g.120993592G>A - - HNF1A_000134 - PubMed: Bellanne-Chantelot 2008; Hattersley. 1998. Diabetic Medicine, 15:5-24. - - Germline - - - - - DNA SEQ - - MODY - PubMed: Bellanne-Chantelot 2008; Hattersley. 1998. Diabetic Medicine, 15:5-24. Diabetes diagnosed aged 19 years F - Ireland white - - - - 1 Kevin Colclough
+/+ 3 c.599G>A r.(?) p.(Arg200Gln) Unknown - pathogenic g.121431395G>A g.120993592G>A - - HNF1A_000134 - PubMed: Bellanne-Chantelot 2008; Hattersley. 1998. Diabetic Medicine, 15:5-24. - - Germline - - - - - DNA SEQ - - MODY - PubMed: Bellanne-Chantelot 2008; Hattersley. 1998. Diabetic Medicine, 15:5-24. Diabetes diagnosed aged 43 years F - Ireland white - - - - 1 Kevin Colclough
+/. - c.599G>A r.(?) p.(Arg200Gln) Unknown - pathogenic g.121431395G>A g.120993592G>A HNF1A(NM_000545.5):c.599G>A (p.(Arg200Gln)) - HNF1A_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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