Full data view for gene HNF1A

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

24 entries on 1 page. Showing entries 1 - 24.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Class     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
+?/+? 1 c.-290G>A r.(=) p.(=) likely pathogenic Unknown g.121416282G>A - HNF1A_000026 - - - - - - - -
?/? 1 c.-96T>G r.(=) p.(=) VUS Unknown g.121416476T>G - HNF1A_000027 - - - - - - - -
-/-? 1 c.-4A>G r.(=) p.(=) likely benign Unknown g.121416568A>G - HNF1A_000004 - - - - - - - -
+/+ 1 c.2T>C r.? p.? pathogenic Unknown g.121416573T>C - HNF1A_000012 - - - - - - - -
+/+ 1 c.24_35dup r.(?) p.(Gln9_Leu12dup) pathogenic Unknown g.121416595_121416606dup - HNF1A_000013 - - - - - - - -
+/+ 1 c.235del r.(?) p.(Glu79Lysfs*76) pathogenic Unknown g.121416806del - HNF1A_000006 - - - - - - - -
+/+ 2 c.335C>T r.(?) p.(Pro112Leu) - Unknown g.121426644C>T - HNF1A_000014 - - - - - - - -
?/-? 2 c.336G>A r.(=) p.(Pro112=) likely benign Unknown g.121426645G>A - HNF1A_000002 - - - - - - - -
?/+? 2 c.382A>T r.(?) p.(Ile128Phe) likely pathogenic Unknown g.121426691A>T - HNF1A_000005 - - - - - - - -
+/+ 2 c.425C>T r.(?) p.(Ser142Phe) pathogenic Unknown g.121426734C>T - HNF1A_000015 - - - - - - - -
+/+ 2 c.526C>T r.(?) p.(Gln176*) pathogenic Unknown g.121426835C>T - HNF1A_000016 - - - - - - - -
?/-? 3 c.693G>A r.(=) p.(=) likely benign Unknown g.121431489G>A - HNF1A_000008 - - - - - - - -
+/+ 3 c.713+1G>A r.spl? p.? pathogenic Unknown g.121431510G>A - HNF1A_000011 - - - - - - - -
+/+ 4 c.811C>T r.(?) p.(Arg271Trp) pathogenic Unknown g.121432064C>T - HNF1A_000017 - - - - - - - -
+/+ 4 c.824_826del r.(?) p.(Glu275del) pathogenic Unknown g.121432077_121432079del - HNF1A_000018 - - - - - - - -
+/+ 4 c.864del r.(?) p.(Pro291Glnfs*51) pathogenic Unknown g.121432117del - HNF1A_000020 - - - - - - - -
+/+ 4 c.872dup r.(?) p.(Gly292Argfs*25) pathogenic Unknown g.121432125dup - HNF1A_000019 - - - - - - - -
?/? 5 c.1061C>T r.(?) p.(Thr354Met) VUS Unknown g.121434170C>T - HNF1A_000009 - - - - - - - -
+/+ 6 c.1124dup r.(?) p.(Leu377Profs*42) pathogenic Unknown g.121434360dup - HNF1A_000021 - - - - - - - -
+/+ 6 c.1137del r.(?) p.(Val380Serfs*4) pathogenic Unknown g.121434373del - HNF1A_000022 - - - - - - - -
+?/+? 7 c.1421_1424dup r.(?) p.(Leu476Alafs*74) pathogenic Unknown g.121435388_121435391dup - HNF1A_000028 - - - - - - - -
?/? 8 c.1521C>G r.(=) p.(=) VUS Unknown g.121437090C>G - HNF1A_000010 - - - - - - - -
+/+ 10 c.1822_1823del r.(?) p.(Ser608Profs*40) pathogenic Unknown g.121438921_121438922del - HNF1A_000024 - - - - - - - -
+/+ 10 c.1822_1829del r.(?) p.(Ser608Alafs*38) pathogenic Unknown g.121438921_121438928del - HNF1A_000025 - - - - - - - -
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