All variants in the HNF1A gene

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

50 entries on 1 page. Showing entries 1 - 50.
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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.293C>T r.(?) p.(Ala98Val) - benign g.121416864C>T g.120979061C>T HNF1A(NM_000545.5):c.293C>T (p.(Ala98Val)), HNF1A(NM_001306179.2):c.293C>T (p.A98V) - HNF1A_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.293C>T r.(?) p.(Ala98Val) - benign g.121416864C>T g.120979061C>T HNF1A(NM_000545.5):c.293C>T (p.(Ala98Val)), HNF1A(NM_001306179.2):c.293C>T (p.A98V) - HNF1A_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/? 1 c.293C>T r.(?) p.(Ala98Val) - benign g.121416864C>T g.120979061C>T - - HNF1A_000093 - PubMed: Yamagata 1996 - - Germline - - - 0 - Monique Losekoot
+/+ 1 c.293C>T r.(?) p.(Ala98Val) - pathogenic g.121416864C>T g.120979061C>T - - HNF1A_000093 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
+/+ 1 c.293C>T r.(?) p.(Ala98Val) - pathogenic g.121416864C>T g.120979061C>T - - HNF1A_000093 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
+/+ 1 c.293C>T r.(?) p.(Ala98Val) - pathogenic g.121416864C>T g.120979061C>T - - HNF1A_000093 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
+/+ 1 c.293C>T r.(?) p.(Ala98Val) - pathogenic g.121416864C>T g.120979061C>T - - HNF1A_000093 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
+/+ 1 c.293C>T r.(?) p.(Ala98Val) - pathogenic g.121416864C>T g.120979061C>T - - HNF1A_000093 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
+/+ 1 c.293C>T r.(?) p.(Ala98Val) - pathogenic g.121416864C>T g.120979061C>T - - HNF1A_000093 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
+/+ 1 c.293C>T r.(?) p.(Ala98Val) - pathogenic g.121416864C>T g.120979061C>T - - HNF1A_000093 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
+/+ 1 c.293C>T r.(?) p.(Ala98Val) - pathogenic g.121416864C>T g.120979061C>T - - HNF1A_000093 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
+/+ 1 c.293C>T r.(?) p.(Ala98Val) - pathogenic g.121416864C>T g.120979061C>T - - HNF1A_000093 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
+/+ 1 c.293C>T r.(?) p.(Ala98Val) - pathogenic g.121416864C>T g.120979061C>T - - HNF1A_000093 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
+/+ 1 c.293C>T r.(?) p.(Ala98Val) - pathogenic g.121416864C>T g.120979061C>T - - HNF1A_000093 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
+/+ 1 c.293C>T r.(?) p.(Ala98Val) - pathogenic g.121416864C>T g.120979061C>T - - HNF1A_000093 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
+/+ 1 c.293C>T r.(?) p.(Ala98Val) - pathogenic g.121416864C>T g.120979061C>T - - HNF1A_000093 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
+/+ 1 c.293C>T r.(?) p.(Ala98Val) - pathogenic g.121416864C>T g.120979061C>T - - HNF1A_000093 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
+/+ 1 c.293C>T r.(?) p.(Ala98Val) - pathogenic g.121416864C>T g.120979061C>T - - HNF1A_000093 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
+/+ 1 c.293C>T r.(?) p.(Ala98Val) - pathogenic g.121416864C>T g.120979061C>T - - HNF1A_000093 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
+/+ 1 c.293C>T r.(?) p.(Ala98Val) - pathogenic g.121416864C>T g.120979061C>T - - HNF1A_000093 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
+/+ 1 c.293C>T r.(?) p.(Ala98Val) - pathogenic g.121416864C>T g.120979061C>T - - HNF1A_000093 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
+/+ 1 c.293C>T r.(?) p.(Ala98Val) - pathogenic g.121416864C>T g.120979061C>T - - HNF1A_000093 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
+/+ 1 c.293C>T r.(?) p.(Ala98Val) - pathogenic g.121416864C>T g.120979061C>T - - HNF1A_000093 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
+/+ 1 c.293C>T r.(?) p.(Ala98Val) - pathogenic g.121416864C>T g.120979061C>T - - HNF1A_000093 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
+/+ 1 c.293C>T r.(?) p.(Ala98Val) - pathogenic g.121416864C>T g.120979061C>T - - HNF1A_000093 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
+/+ 1 c.293C>T r.(?) p.(Ala98Val) - pathogenic g.121416864C>T g.120979061C>T - - HNF1A_000093 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
+/+ 1 c.293C>T r.(?) p.(Ala98Val) - pathogenic g.121416864C>T g.120979061C>T - - HNF1A_000093 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
+/+ 1 c.293C>T r.(?) p.(Ala98Val) - pathogenic g.121416864C>T g.120979061C>T - - HNF1A_000093 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
+/+ 1 c.293C>T r.(?) p.(Ala98Val) - pathogenic g.121416864C>T g.120979061C>T - - HNF1A_000093 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
+/+ 1 c.293C>T r.(?) p.(Ala98Val) - pathogenic g.121416864C>T g.120979061C>T - - HNF1A_000093 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
+/+ 1 c.293C>T r.(?) p.(Ala98Val) - pathogenic g.121416864C>T g.120979061C>T - - HNF1A_000093 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
+/+ 1 c.293C>T r.(?) p.(Ala98Val) - pathogenic g.121416864C>T g.120979061C>T - - HNF1A_000093 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
+/+ 1 c.293C>T r.(?) p.(Ala98Val) - pathogenic g.121416864C>T g.120979061C>T - - HNF1A_000093 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
+/+ 1 c.293C>T r.(?) p.(Ala98Val) - pathogenic g.121416864C>T g.120979061C>T - - HNF1A_000093 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
+/+ 1 c.293C>T r.(?) p.(Ala98Val) - pathogenic g.121416864C>T g.120979061C>T - - HNF1A_000093 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
+/+ 1 c.293C>T r.(?) p.(Ala98Val) - pathogenic g.121416864C>T g.120979061C>T - - HNF1A_000093 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
+/+ 1 c.293C>T r.(?) p.(Ala98Val) - pathogenic g.121416864C>T g.120979061C>T - - HNF1A_000093 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
+/+ 1 c.293C>T r.(?) p.(Ala98Val) - pathogenic g.121416864C>T g.120979061C>T - - HNF1A_000093 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
+/+ 1 c.293C>T r.(?) p.(Ala98Val) - pathogenic g.121416864C>T g.120979061C>T - - HNF1A_000093 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
+/+ 1 c.293C>T r.(?) p.(Ala98Val) - pathogenic g.121416864C>T g.120979061C>T - - HNF1A_000093 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
+/+ 1 c.293C>T r.(?) p.(Ala98Val) - pathogenic g.121416864C>T g.120979061C>T - - HNF1A_000093 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
+/+ 1 c.293C>T r.(?) p.(Ala98Val) - pathogenic g.121416864C>T g.120979061C>T - - HNF1A_000093 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
+/+ 1 c.293C>T r.(?) p.(Ala98Val) - pathogenic g.121416864C>T g.120979061C>T - - HNF1A_000093 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
+/+ 1 c.293C>T r.(?) p.(Ala98Val) - pathogenic g.121416864C>T g.120979061C>T - - HNF1A_000093 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
+/+ 1 c.293C>T r.(?) p.(Ala98Val) - pathogenic g.121416864C>T g.120979061C>T - - HNF1A_000093 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
+/+ 1 c.293C>T r.(?) p.(Ala98Val) - pathogenic g.121416864C>T g.120979061C>T - - HNF1A_000093 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
+/+ 1 c.293C>T r.(?) p.(Ala98Val) - pathogenic g.121416864C>T g.120979061C>T - - HNF1A_000093 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
+/+ 1 c.293C>T r.(?) p.(Ala98Val) - pathogenic g.121416864C>T g.120979061C>T - - HNF1A_000093 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
+/+ 1 c.293C>T r.(?) p.(Ala98Val) - pathogenic g.121416864C>T g.120979061C>T - - HNF1A_000093 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
+/+ 1 c.293C>T r.(?) p.(Ala98Val) - pathogenic g.121416864C>T g.120979061C>T - - HNF1A_000093 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
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