Full data view for gene HNF1A

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

20 entries on 1 page. Showing entries 1 - 20.
Legend   How to query  

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     
+/+ 4 c.824_826del r.(?) p.(Glu275del) Unknown - pathogenic g.121432077_121432079del g.120994274_120994276del c.824_826delAAG - HNF1A_000156 - M. Losekoot - - Germline - - - - - DNA SEQ - - MODY - M. Losekoot - - - - - - - - - 1 Monique Losekoot
+/+ 4 c.824_826del r.(?) p.(Glu275del) Unknown - pathogenic g.121432077_121432079del g.120994274_120994276del c.824_826delAAG - HNF1A_000156 - M. Losekoot - - Germline - - - - - DNA SEQ - - MODY - M. Losekoot - - - - - - - - - 1 Monique Losekoot
+/+ 4 c.824_826del r.(?) p.(Glu275del) Unknown - pathogenic g.121432077_121432079del g.120994274_120994276del - - HNF1A_000156 - M. Losekoot - - Germline - - - - - DNA SEQ - - MODY - M. Losekoot - - - - - - - - - 1 Monique Losekoot
+/+ 4 c.824_826del r.(?) p.(Glu275del) Unknown - pathogenic g.121432077_121432079del g.120994274_120994276del - - HNF1A_000156 - M. Losekoot - - Germline - - - - - DNA SEQ - - MODY - M. Losekoot - - - - - - - - - 1 Monique Losekoot
+/+ 4 c.824_826del r.(?) p.(Glu275del) Unknown - pathogenic g.121432077_121432079del g.120994274_120994276del - - HNF1A_000156 - M. Losekoot - - Germline - - - - - DNA SEQ - - MODY - M. Losekoot - - - - - - - - - 1 Monique Losekoot
+/+ 4 c.824_826del r.(?) p.(Glu275del) Unknown - pathogenic g.121432077_121432079del g.120994274_120994276del - - HNF1A_000156 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - - - DNA SEQ - - MODY - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital Diabetes diagnosed aged 28 years F - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 4 c.824_826del r.(?) p.(Glu275del) Unknown - pathogenic g.121432077_121432079del g.120994274_120994276del - - HNF1A_000156 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - - - DNA SEQ - - MODY - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital Diabetes diagnosed aged 19 years F - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 4 c.824_826del r.(?) p.(Glu275del) Unknown - pathogenic g.121432077_121432079del g.120994274_120994276del - - HNF1A_000156 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - - - DNA SEQ - - MODY - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital Diabetes diagnosed aged 17 years F - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 4 c.824_826del r.(?) p.(Glu275del) Unknown - pathogenic g.121432077_121432079del g.120994274_120994276del - - HNF1A_000156 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - - - DNA SEQ - - MODY - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital Diabetes diagnosed aged 21 years M - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 4 c.824_826del r.(?) p.(Glu275del) Unknown - pathogenic g.121432077_121432079del g.120994274_120994276del - - HNF1A_000156 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - - - DNA SEQ - - MODY - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - F - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 4 c.824_826del r.(?) p.(Glu275del) Unknown - pathogenic g.121432077_121432079del g.120994274_120994276del - - HNF1A_000156 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - - - DNA SEQ - - MODY - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital Diabetes diagnosed aged 22 years M - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 4 c.824_826del r.(?) p.(Glu275del) Unknown - pathogenic g.121432077_121432079del g.120994274_120994276del - - HNF1A_000156 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - - - DNA SEQ - - MODY - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital Diabetes diagnosed aged 41 years F - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 4 c.824_826del r.(?) p.(Glu275del) Unknown - pathogenic g.121432077_121432079del g.120994274_120994276del - - HNF1A_000156 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - - - DNA SEQ - - MODY - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital Diabetes diagnosed aged 29 years F - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 4 c.824_826del r.(?) p.(Glu275del) Unknown - pathogenic g.121432077_121432079del g.120994274_120994276del - - HNF1A_000156 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - - - DNA SEQ - - MODY - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital Diabetes diagnosed aged 30 years M - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 4 c.824_826del r.(?) p.(Glu275del) Unknown - pathogenic g.121432077_121432079del g.120994274_120994276del - - HNF1A_000156 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - - - DNA SEQ - - MODY - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital Diabetes diagnosed aged 21 years F - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 4 c.824_826del r.(?) p.(Glu275del) Unknown - pathogenic g.121432077_121432079del g.120994274_120994276del - - HNF1A_000156 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - - - DNA SEQ - - MODY - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital Diabetes diagnosed aged 34 years M - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 4 c.824_826del r.(?) p.(Glu275del) Unknown - pathogenic g.121432077_121432079del g.120994274_120994276del - - HNF1A_000156 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - - - DNA SEQ - - MODY - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital Diabetes diagnosed aged 17 years F - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 4 c.824_826del r.(?) p.(Glu275del) Unknown - pathogenic g.121432077_121432079del g.120994274_120994276del - - HNF1A_000156 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - - - DNA SEQ - - MODY - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital Diabetes diagnosed aged 30 years M - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 4 c.824_826del r.(?) p.(Glu275del) Unknown - pathogenic g.121432077_121432079del g.120994274_120994276del - - HNF1A_000156 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - - - DNA SEQ - - MODY - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital Diabetes diagnosed aged 36 years M - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
+/+ 4 c.824_826del r.(?) p.(Glu275del) Unknown - pathogenic g.121432077_121432079del g.120994274_120994276del - - HNF1A_000156 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - - - DNA SEQ - - MODY - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital Diabetes diagnosed aged 6 years F - United Kingdom (Great Britain) white - - - - 1 Kevin Colclough
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.