All variants in the HNF1A gene

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

13 entries on 1 page. Showing entries 1 - 13.
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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     
+/+ 1i_10_ c.(326+1_372-1)_(*1320_?)del r.? p.? - pathogenic g.(121416898_121426680)_(121440315_?)del - - - HNF1A_000248 - Ellard 2007. Diabetologia, 50:2313-2317. - - Germline - - - 0 - Kevin Colclough
+/+ 1i_10_ c.(326+1_372-1)_(*1320_?)del r.? p.? - pathogenic g.(121416898_121426680)_(121440315_?)del - - - HNF1A_000248 - Ellard 2007. Diabetologia, 50:2313-2317. - - Germline - - - 0 - Kevin Colclough
+/+ 1i_10_ c.(326+1_372-1)_(*1320_?)del r.? p.? - pathogenic g.(121416898_121426680)_(121440315_?)del - - - HNF1A_000248 - Ellard 2007. Diabetologia, 50:2313-2317. - - Germline - - - 0 - Kevin Colclough
+/+ 1i_10_ c.(326+1_372-1)_(*1320_?)del r.? p.? - pathogenic g.(121416898_121426680)_(121440315_?)del - - - HNF1A_000248 - Ellard 2007. Diabetologia, 50:2313-2317. - - Germline - - - 0 - Kevin Colclough
+/+ 1i_10_ c.(326+1_372-1)_(*1320_?)del r.? p.? - pathogenic g.(121416898_121426680)_(121440315_?)del - - - HNF1A_000248 - Ellard 2007. Diabetologia, 50:2313-2317. - - Germline - - - 0 - Kevin Colclough
+/+ 1i_10_ c.(326+1_372-1)_(*1320_?)del r.? p.? - pathogenic g.(121416898_121426680)_(121440315_?)del - - - HNF1A_000248 - Ellard 2007. Diabetologia, 50:2313-2317. - - Germline - - - 0 - Kevin Colclough
+/+ 1i_10_ c.(326+1_372-1)_(*1320_?)del r.? p.? - pathogenic g.(121416898_121426680)_(121440315_?)del - - - HNF1A_000248 - Ellard 2007. Diabetologia, 50:2313-2317. - - Germline - - - 0 - Kevin Colclough
+/+ 1i_10_ c.(326+1_372-1)_(*1320_?)del r.? p.? - pathogenic g.(121416898_121426680)_(121440315_?)del - - - HNF1A_000248 - Ellard 2007. Diabetologia, 50:2313-2317. - - Germline - - - 0 - Kevin Colclough
+/+ 1i_10_ c.(326+1_372-1)_(*1320_?)del r.? p.? - pathogenic g.(121416898_121426680)_(121440315_?)del - - - HNF1A_000248 - Ellard 2007. Diabetologia, 50:2313-2317. - - Germline - - - 0 - Kevin Colclough
+/+ 1i_10_ c.(326+1_372-1)_(*1320_?)del r.? p.? - pathogenic g.(121416898_121426680)_(121440315_?)del - - - HNF1A_000248 - Ellard 2007. Diabetologia, 50:2313-2317. - - Germline - - - 0 - Kevin Colclough
+/+ 1i_10_ c.(326+1_372-1)_(*1320_?)del r.? p.? - pathogenic g.(121416898_121426680)_(121440315_?)del - - - HNF1A_000248 - Ellard 2007. Diabetologia, 50:2313-2317. - - Germline - - - 0 - Kevin Colclough
+/+ 1i_10_ c.(326+1_372-1)_(*1320_?)del r.? p.? - pathogenic g.(121416898_121426680)_(121440315_?)del - - - HNF1A_000248 - Ellard 2007. Diabetologia, 50:2313-2317. - - Germline - - - 0 - Kevin Colclough
+/+ 1i_10_ c.(326+1_372-1)_(*1320_?)del r.? p.? - pathogenic g.(121416898_121426680)_(121440315_?)del - - - HNF1A_000248 - Ellard 2007. Diabetologia, 50:2313-2317. - - Germline - - - 0 - Kevin Colclough
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