All variants in the HNF1A gene

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

12 entries on 1 page. Showing entries 1 - 12.
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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     
?/? 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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