Unique variants in gene HNF1A

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

60 entries on 1 page. Showing entries 1 - 60.
Legend  

Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Genetic origin     

Segregation     

Is Greek Founder     

Owner     
./. 2 - c.-4A>G r.(=) p.(=) g.121416568A>G - HNF1A_000032 - - - - Despoina Kalfakakou
./. 1 - c.29C>T r.(?) p.(Thr10Met) g.121416600C>T - HNF1A_000056 - - - - Despoina Kalfakakou
./. 2 - c.92G>A r.(?) p.(Gly31Asp) g.121416663G>A - HNF1A_000019 - - - - Despoina Kalfakakou
./. 2 - c.99G>A r.(=) p.(=) g.121416670G>A - HNF1A_000016 - - - - Despoina Kalfakakou
./. 1 - c.238G>T r.(?) p.(Asp80Tyr) g.121416809G>T - HNF1A_000017 rs76845985 - - - Despoina Kalfakakou
./. 1 - c.285G>A r.(=) p.(=) g.121416856G>A - HNF1A_000053 - - - - Despoina Kalfakakou
./. 1 - c.292G>A r.(?) p.(Ala98Thr) g.121416863G>A - HNF1A_000007 - - - - Despoina Kalfakakou
./. 1 - c.326+24G>A r.(=) p.(=) g.121416921G>A - HNF1A_000018 - - - - Despoina Kalfakakou
./. 2 - c.326+25C>T r.(=) p.(=) g.121416922C>T - HNF1A_000028 - - - - Despoina Kalfakakou
./. 2 - c.327-21C>A r.(=) p.(=) g.121426615C>A - HNF1A_000003 - - - - Despoina Kalfakakou
./. 14 - c.336G>A r.(=) p.(=) g.121426645G>A - HNF1A_000010 - - - - Despoina Kalfakakou
./. 1 - c.341G>A r.(?) p.(Arg114His) g.121426650G>A - HNF1A_000047 - - - - Despoina Kalfakakou
./. 1 - c.355G>C r.(?) p.(Val119Leu) g.121426664G>C - HNF1A_000059 - - - - Despoina Kalfakakou
./. 6 - c.481G>A r.(?) p.(Ala161Thr) g.121426790G>A - HNF1A_000004 - - - - Despoina Kalfakakou
./. 1 - c.526+18C>G r.(=) p.(=) g.121426853C>G - HNF1A_000058 - - - - Despoina Kalfakakou
./. 1 - c.527-6C>T r.(=) p.(=) g.121431317C>T - HNF1A_000024 - - - - Despoina Kalfakakou
./. 5 - c.693G>A r.(=) p.(=) g.121431489G>A - HNF1A_000020 - - - - Despoina Kalfakakou
./. 1 - c.713+14C>T r.(=) p.(=) g.121431523C>T - HNF1A_000055 - - - - Despoina Kalfakakou
./. 1 - c.713+50G>A r.(=) p.(=) g.121431559G>A - HNF1A_000011 - - - - Despoina Kalfakakou
./. 7 - c.716C>T r.(?) p.(Ala239Val) g.121431969C>T - HNF1A_000005 - - - - Despoina Kalfakakou
./. 1 - c.775G>A r.(?) p.(Val259Ile) g.121432028G>A - HNF1A_000045 - - - - Despoina Kalfakakou
./. 2 - c.862G>T r.(?) p.(Gly288Trp) g.121432115G>T - HNF1A_000041 - - - - Despoina Kalfakakou
./. 1 - c.865C>T r.(?) p.(Pro289Ser) g.121432118C>T - HNF1A_000042 - - - - Despoina Kalfakakou
./. 1 - c.867C>A r.(=) p.(=) g.121432120C>A - HNF1A_000033 - - - - Despoina Kalfakakou
./. 1 - c.873A>G r.(=) p.(=) g.121432126A>G - HNF1A_000043 - - - - Despoina Kalfakakou
./. 1 - c.942C>T r.(=) p.(=) g.121432195C>T - HNF1A_000048 - - - - Despoina Kalfakakou
./. 1 - c.956-31T>C r.(=) p.(=) g.121434034T>C - HNF1A_000060 - - - - Despoina Kalfakakou
./. 1 - c.956-24G>A r.(=) p.(=) g.121434041G>A - HNF1A_000054 - - - - Despoina Kalfakakou
./. 1 - c.962G>A r.(?) p.(Arg321His) g.121434071G>A - HNF1A_000051 - - - - Despoina Kalfakakou
./. 1 - c.984T>G r.(?) p.(Ser328Arg) g.121434093T>G - HNF1A_000040 - - - - Despoina Kalfakakou
./. 1 - c.1061C>T r.(?) p.(Thr354Met) g.121434170C>T - HNF1A_000049 - - - - Despoina Kalfakakou
./. 2 - c.1108-36C>T r.(=) p.(=) g.121434308C>T - HNF1A_000006 - - - - Despoina Kalfakakou
./. 2 - c.1108-34G>A r.(=) p.(=) g.121434310G>A - HNF1A_000034 - - - - Despoina Kalfakakou
./. 38 - c.1108-27C>T r.(=) p.(=) g.121434317C>T - HNF1A_000001 - - - - Despoina Kalfakakou
./. 1 - c.1108-4G>A r.spl? p.? g.121434340G>A - HNF1A_000012 - - - - Despoina Kalfakakou
./. 1 - c.1170G>A r.(=) p.(=) g.121434406G>A - HNF1A_000022 - - - - Despoina Kalfakakou
./. 1 - c.1310-29C>T r.(=) p.(=) g.121435248C>T - HNF1A_000013 - - - - Despoina Kalfakakou
./. 1 - c.1310-12C>T r.(=) p.(=) g.121435265C>T - HNF1A_000026 - - - - Despoina Kalfakakou
./. 6 - c.1386C>T r.(=) p.(=) g.121435353C>T - HNF1A_000002 - - - - Despoina Kalfakakou
./. 1 - c.1401G>A r.(=) p.(=) g.121435368G>A - HNF1A_000039 - - - - Despoina Kalfakakou
./. 1 - c.1411T>G r.(?) p.(Ser471Ala) g.121435378T>G - HNF1A_000023 - - - - Despoina Kalfakakou
./. 1 - c.1424C>A r.(?) p.(Pro475Gln) g.121435391C>A - HNF1A_000027 - - - - Despoina Kalfakakou
./. 1 - c.1499A>G r.(?) p.(His500Arg) g.121435466A>G - HNF1A_000052 - - - - Despoina Kalfakakou
./. 2 - c.1513C>A r.(?) p.(His505Asn) g.121437082C>A - HNF1A_000014 - - - - Despoina Kalfakakou
./. 1 - c.1522G>A r.(?) p.(Glu508Lys) g.121437091G>A - HNF1A_000038 - - - - Despoina Kalfakakou
./. 21 - c.1539C>T r.(=) p.(=) g.121437108C>T - HNF1A_000015 - - - - Despoina Kalfakakou
./. 6 - c.1623+23C>T r.(=) p.(=) g.121437215C>T - HNF1A_000008 - - - - Despoina Kalfakakou
./. 1 - c.1623+42A>G r.(=) p.(=) g.121437234A>G - HNF1A_000046 - - - - Despoina Kalfakakou
./. 1 - c.1623+45C>T r.(=) p.(=) g.121437237C>T - HNF1A_000031 - - - - Despoina Kalfakakou
./. 1 - c.1624-23_1624-21del r.(=) p.(=) g.121437263_121437265del - HNF1A_000050 - - - - Despoina Kalfakakou
./. 1 - c.1624-19G>A r.(=) p.(=) g.121437267G>A - HNF1A_000021 - - - - Despoina Kalfakakou
./. 1 - c.1655A>C r.(?) p.(Glu552Ala) g.121437317A>C - HNF1A_000057 - - - - Despoina Kalfakakou
./. 4 - c.1729C>G r.(?) p.(His577Asp) g.121437391C>G - HNF1A_000036 - - - - Despoina Kalfakakou
./. 2 - c.1745A>G r.(?) p.(His582Arg) g.121437407A>G - HNF1A_000037 - - - - Despoina Kalfakakou
./. 1 - c.1748G>A r.(?) p.(Arg583Gln) g.121437410G>A - HNF1A_000035 - - - - Despoina Kalfakakou
./. 1 - c.1768+24C>T r.(=) p.(=) g.121437454C>T - HNF1A_000009 - - - - Despoina Kalfakakou
./. 1 - c.1769-41G>A r.(=) p.(=) g.121438827G>A - HNF1A_000029 - - - - Despoina Kalfakakou
./. 1 - c.1823G>C r.(?) p.(Ser608Thr) g.121438922G>C - HNF1A_000044 - - - - Despoina Kalfakakou
./. 1 - c.1824C>A r.(?) p.(Ser608Arg) g.121438923C>A - HNF1A_000025 - - - - Despoina Kalfakakou
./. 1 - c.*40G>C r.(=) p.(=) g.121439035G>C - HNF1A_000030 rs78184916 - - - Despoina Kalfakakou
Legend