All variants in the HNF1A gene

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

22 entries on 1 page. Showing entries 1 - 22.
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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.? r.(?) p.(Gly319Ser) - VUS g.? - - - ALX1_000001 - PubMed: Heidet 2017 - - Germline - - - 0 - Johan den Dunnen
+/? 1 c.? r.(?) p.? - pathogenic g.? - c.58A>C - HNF1A_000060 - Gragnoli 1997 - - Germline - - - 0 - Monique Losekoot
+/? 1 c.? r.? p.? - pathogenic g.? - c.1+8T>C - HNF1A_000005 - Godart 1998 - - Germline - - - 0 - Monique Losekoot
+/? 1 c.? r.? p.? - pathogenic g.? - c.1+45G>A - HNF1A_000003 - Kawasaki 1999 - - Germline - - - 0 - Monique Losekoot
+/? 1 c.? r.? p.? - pathogenic g.? - c.1+46C>A - HNF1A_000004 - - - - Germline - - - 0 - Monique Losekoot
+/? 1 c.? r.? p.? - pathogenic g.? - c.1+102G>C - HNF1A_000001 - Yoshiuchi 1999 - - Germline - - - 0 - Monique Losekoot
+/? 1 c.? r.? p.? - pathogenic g.? - c.1+107delG - HNF1A_000002 - Godart 1998 - - Germline - - - 0 - Monique Losekoot
-/? 9i c.? r.(?) p.(=) - benign g.? - c.1769-44C>T - HNF1A_000082 - Yamada 1997b - - Germline - - - 0 - Monique Losekoot
?/? 3i c.? r.(?) p.(=) - VUS g.? - c.714-63C>A - HNF1A_000143 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
?/? 7i c.? r.(?) p.(=) - VUS g.? - c.1502-19G>A - HNF1A_000054 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
?/? 4i c.? r.(?) p.(=) - VUS g.? - c.956-27C>T - HNF1A_000167 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
?/? 1 c.? r.(?) p.? - VUS g.? - c.277C>T - HNF1A_000029 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
-/- 1 c.? r.(?) p.? - benign g.? - c.145G>A - HNF1A_000022 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
?/? 1 c.? r.(?) p.? - VUS g.? - - - HNF1A_000050 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
-/- 3 c.? r.(?) p.? - benign g.? - - - HNF1A_000068 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
?/? 1 c.? r.(?) p.? - VUS g.? - - - HNF1A_000016 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
?/? 2 c.? r.(?) p.? - VUS g.? - - - HNF1A_000037 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
?/? 1 c.? r.(?) p.? - VUS g.? - - - HNF1A_000034 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
-/- 2 c.? r.(?) p.? - benign g.? - - - HNF1A_000056 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
?/? 1 c.? r.(?) p.? - VUS g.? - - - HNF1A_000025 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
?/? 1 c.? r.(?) p.? - VUS g.? - - - HNF1A_000017 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
?/? 1 c.? r.(?) p.? - VUS g.? - - - HNF1A_000034 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
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