Full data view for gene HNF1A

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

7 entries on 1 page. Showing entries 1 - 7.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Template     

Technique     

Type     

Disease     

Reference     

Gender     

Geographic origin     

Geographic origin     

Population     

Consanguinity     

Remarks     

Panel size     

Owner     
?/? - c.716C>T r.(?) p.(Ala239Val) Parent #2 g.121431969C>T - HNF1A_000005 rs587778397 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
?/? - c.716C>T r.(?) p.(Ala239Val) Parent #2 g.121431969C>T - HNF1A_000005 rs587778397 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Agrinio - Greek no - 1 Despoina Kalfakakou
?/? - c.716C>T r.(?) p.(Ala239Val) Parent #2 g.121431969C>T - HNF1A_000005 rs587778397 - Germline - - - - DNA SEQ-NG-I 1 BrCa, UtPol - F Achaia Lasithi Greek no - 4 Despoina Kalfakakou
?/? - c.716C>T r.(?) p.(Ala239Val) Parent #2 g.121431969C>T - HNF1A_000005 rs587778397 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Manolada, Elis - Greek no - 1 Despoina Kalfakakou
?/? - c.716C>T r.(?) p.(Ala239Val) Parent #2 g.121431969C>T - HNF1A_000005 rs587778397 - Germline - - - - DNA SEQ-NG-I 1 Healthy/Control - F Mytilene Sparti Greek no - 1 Despoina Kalfakakou
?/? - c.716C>T r.(?) p.(Ala239Val) Parent #2 g.121431969C>T - HNF1A_000005 rs587778397 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Pachturi, Trikala Pezoula, Karditsa Greek no - 1 Despoina Kalfakakou
?/? - c.716C>T r.(?) p.(Ala239Val) Parent #2 g.121431969C>T - HNF1A_000005 rs587778397 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor - Greek no - 1 Despoina Kalfakakou
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