Full data view for gene HNF1A

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

5 entries on 1 page. Showing entries 1 - 5.
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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     
+/+ _1_10_ c.(?_-23)_(*1320_?)del r.0? p.0? Unknown - pathogenic g.(?_121416549)_(121440315_?)del - - - HNF1A_000172 - Ellard 2007. Diabetologia, 50:2313-2317. - - Germline - - - 0 - DNA MLPA - - MODY - Ellard 2007. Diabetologia, 50:2313-2317. Diabetes diagnosed aged 16 years M - United Kingdom (Great Britain) - - 0 - - 1 Kevin Colclough
+/+ _1_10_ c.(?_-23)_(*1320_?)del r.0? p.0? Unknown - pathogenic g.(?_121416549)_(121440315_?)del - - - HNF1A_000172 - Ellard 2007. Diabetologia, 50:2313-2317. - - Germline - - - 0 - DNA MLPA - - MODY - Ellard 2007. Diabetologia, 50:2313-2317. Diabetes diagnosed aged 20 years F - United Kingdom (Great Britain) white - 0 - - 1 Kevin Colclough
+/+ _1_10_ c.(?_-23)_(*1320_?)del r.0? p.0? Unknown - pathogenic g.(?_121416549)_(121440315_?)del - - - HNF1A_000172 - Ellard 2007. Diabetologia, 50:2313-2317. - - Germline - - - 0 - DNA MLPA - - MODY - Ellard 2007. Diabetologia, 50:2313-2317. Diabetes diagnosed aged 46 years M - United Kingdom (Great Britain) white - 0 - - 1 Kevin Colclough
+/+ _1_10_ c.(?_-23)_(*1320_?)del r.0? p.0? Unknown - pathogenic g.(?_121416549)_(121440315_?)del - - - HNF1A_000172 - Ellard 2007. Diabetologia, 50:2313-2317. - - Germline - - - 0 - DNA MLPA - - MODY - Ellard 2007. Diabetologia, 50:2313-2317. Diabetes diagnosed aged 30 years M - United Kingdom (Great Britain) white - 0 - - 1 Kevin Colclough
+/+ _1_10_ c.(?_-23)_(*1320_?)del r.0? p.0? Unknown - pathogenic g.(?_121416549)_(121440315_?)del - - - HNF1A_000172 - Ellard 2007. Diabetologia, 50:2313-2317. - - Germline - - - 0 - DNA MLPA - - MODY - Ellard 2007. Diabetologia, 50:2313-2317. Diabetes diagnosed aged 30 years M - United Kingdom (Great Britain) white - 0 - - 1 Kevin Colclough
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