All variants in the HNF1A gene

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

11 entries on 1 page. Showing entries 1 - 11.
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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     
-?/. - c.92G>A r.(?) p.(Gly31Asp) - likely benign g.121416663G>A g.120978860G>A HNF1A(NM_000545.5):c.92G>A (p.(Gly31Asp)), HNF1A(NM_001306179.1):c.92G>A (p.G31D) - HNF1A_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/- 1 c.92G>A r.(?) p.(Gly31Asp) - benign g.121416663G>A g.120978860G>A - - HNF1A_000164 - PubMed: Chevre 1998, Bartolotta 1999 - - Germline - - - 0 - Monique Losekoot
+/+ 1 c.92G>A r.(?) p.(Gly31Asp) - pathogenic g.121416663G>A g.120978860G>A - - HNF1A_000164 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
+/+ 1 c.92G>A r.(?) p.(Gly31Asp) - pathogenic g.121416663G>A g.120978860G>A - - HNF1A_000164 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
-/- 1 c.92G>A r.(?) p.(Gly31Asp) - benign g.121416663G>A g.120978860G>A - - HNF1A_000164 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - 0 - Kevin Colclough
-/- 1 c.92G>A r.(?) p.(Gly31Asp) - benign g.121416663G>A g.120978860G>A - - HNF1A_000164 - PubMed: Bellanne-Chantelot 2008. - - Germline - - - 0 - Kevin Colclough
-/- 1 c.92G>A r.(?) p.(Gly31Asp) - benign g.121416663G>A g.120978860G>A - - HNF1A_000164 - PubMed: Bellanne-Chantelot 2008. - - Germline - - - 0 - Kevin Colclough
-/- 1 c.92G>A r.(?) p.(Gly31Asp) - benign g.121416663G>A g.120978860G>A - - HNF1A_000164 - PubMed: Bellanne-Chantelot 2008. - - Germline - - - 0 - Kevin Colclough
-/- 1 c.92G>A r.(?) p.(Gly31Asp) - benign g.121416663G>A g.120978860G>A - - HNF1A_000164 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - 0 - Kevin Colclough
-/- 1 c.92G>A r.(?) p.(Gly31Asp) - benign g.121416663G>A g.120978860G>A - - HNF1A_000164 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - 0 - Kevin Colclough
?/. - c.92G>A r.(?) p.(Gly31Asp) - VUS g.121416663G>A g.120978860G>A HNF1A(NM_000545.5):c.92G>A (p.(Gly31Asp)), HNF1A(NM_001306179.1):c.92G>A (p.G31D) - HNF1A_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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