Full data view for gene MSH6

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

66 entries on 1 page. Showing entries 1 - 66.
Legend  

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.3557-40T>A r.(=) p.(=) Parent #2 g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
-?/-? - c.3557-40T>A r.(=) p.(=) Parent #2 g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Heraklion, Crete - Greek no - 1 Despoina Kalfakakou
-?/-? - c.3557-40T>A r.(=) p.(=) Parent #2 g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - DNA SEQ-NG-I 1 OVCA, SkCa - F - - Greek no - 1 Despoina Kalfakakou
-?/-? - c.3557-40T>A r.(=) p.(=) Parent #2 g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Ioannina - Greek no - 2 Despoina Kalfakakou
-?/-? - c.3557-40T>A r.(=) p.(=) Parent #2 g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Cyprus Izmir Greek no - 1 Despoina Kalfakakou
-?/-? - c.3557-40T>A r.(=) p.(=) Parent #2 g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Trikala - Greek no - 1 Despoina Kalfakakou
-?/-? - c.3557-40T>A r.(=) p.(=) Parent #2 g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Karditsa Corfu Greek no - 1 Despoina Kalfakakou
-?/-? - c.3557-40T>A r.(=) p.(=) Parent #2 g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - DNA SEQ-NG-I 1 CRC - M Trikala - Greek no - 1 Despoina Kalfakakou
-?/-? - c.3557-40T>A r.(=) p.(=) Parent #2 g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - DNA SEQ-NG-I 1 ColPol, Polyposis - M Messene, Messenia Armenia Greek no - 1 Despoina Kalfakakou
-?/-? - c.3557-40T>A r.(=) p.(=) Parent #2 g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Pigi, Cyprus Neta, Cyprus Cypriot no - 4 Despoina Kalfakakou
-?/-? - c.3557-40T>A r.(=) p.(=) Parent #2 g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor Chania Greek no - 1 Despoina Kalfakakou
-?/-? - c.3557-40T>A r.(=) p.(=) Parent #2 g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - DNA SEQ-NG-I 1 - - M Kourtaki, Argolis - Greek no - 1 Despoina Kalfakakou
-?/-? - c.3557-40T>A r.(=) p.(=) Parent #2 g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - DNA SEQ-NG-I 1 ColPol, CRC - M Trikeri, Volos Volos Greek no - 1 Despoina Kalfakakou
-?/-? - c.3557-40T>A r.(=) p.(=) Parent #2 g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - DNA SEQ-NG-I 1 ColPol - F Messenia - Greek no - 1 Despoina Kalfakakou
-?/-? - c.3557-40T>A r.(=) p.(=) Parent #2 g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - DNA SEQ-NG-I 1 Healthy/Control - F Egypt - Egyptian no - 1 Despoina Kalfakakou
-?/-? - c.3557-40T>A r.(=) p.(=) Parent #2 g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Pyrgos, Elis Karditsa Greek no - 1 Despoina Kalfakakou
-?/-? - c.3557-40T>A r.(=) p.(=) Parent #2 g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - DNA SEQ-NG-I 1 BrCa - M Kyparissia Preveza Greek no - 1 Despoina Kalfakakou
-?/-? - c.3557-40T>A r.(=) p.(=) Parent #2 g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - DNA SEQ-NG-I 1 BrCa, TRC - F Aetolia-Acarnania - Greek no - 1 Despoina Kalfakakou
-?/-? - c.3557-40T>A r.(=) p.(=) Parent #2 g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Damoulianata, Kefalonia - Greek no - 4 Despoina Kalfakakou
-?/-? - c.3557-40T>A r.(=) p.(=) Parent #2 g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Mandra, Attica Region - Greek no - 1 Despoina Kalfakakou
-?/-? - c.3557-40T>A r.(=) p.(=) Parent #2 g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Tripoli - Greek no - 4 Despoina Kalfakakou
-?/-? - c.3557-40T>A r.(=) p.(=) Parent #2 g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Karitsa, Pieria Leptokarya, Pieria Greek no - 1 Despoina Kalfakakou
-?/-? - c.3557-40T>A r.(=) p.(=) Parent #2 g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Athens - Greek no - 1 Despoina Kalfakakou
-?/-? - c.3557-40T>A r.(=) p.(=) Parent #2 g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - DNA SEQ-NG-I 1 ENC, OVCA - F Corfu - Greek no - 1 Despoina Kalfakakou
-?/-? - c.3557-40T>A r.(=) p.(=) Parent #2 g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
-?/-? - c.3557-40T>A r.(=) p.(=) Parent #2 g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Messinia Orestiada Greek no - 1 Despoina Kalfakakou
-?/-? - c.3557-40T>A r.(=) p.(=) Parent #2 g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Poliani, Messinia Agrilios, Messinia Greek no - 1 Despoina Kalfakakou
-?/-? - c.3557-40T>A r.(=) p.(=) Parent #2 g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Constantinople Argolis Greek no - 1 Despoina Kalfakakou
-?/-? - c.3557-40T>A r.(=) p.(=) Parent #2 g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - DNA SEQ-NG-I 1 - - M Athens - Greek no - 1 Despoina Kalfakakou
-?/-? - c.3557-40T>A r.(=) p.(=) Parent #2 g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - DNA SEQ-NG-I 1 - - M - - Greek no - 1 Despoina Kalfakakou
-?/-? - c.3557-40T>A r.(=) p.(=) Parent #2 g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - DNA SEQ-NG-I 1 - - F - - Greek no - 1 Despoina Kalfakakou
-?/-? - c.3557-40T>A r.(=) p.(=) Parent #2 g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - DNA SEQ-NG-I 1 CAL - F - - Greek no - 2 Despoina Kalfakakou
-?/-? - c.3557-40T>A r.(=) p.(=) Parent #2 g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - DNA SEQ-NG-I 1 CAL, NF, SRCM - M - - Greek no - 3 Despoina Kalfakakou
-?/-? - c.3557-40T>A r.(=) p.(=) Parent #2 g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - DNA SEQ-NG-I 1 NDL - F Andros Samos Greek no - 1 Despoina Kalfakakou
-?/-? - c.3557-40T>A r.(=) p.(=) Parent #2 g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Turkey Siatista, Kozani Greek no - 1 Despoina Kalfakakou
-?/-? - c.3557-40T>A r.(=) p.(=) Parent #2 g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - DNA SEQ-NG-I 1 PrCa - M Lefkada - Greek no - 1 Despoina Kalfakakou
-?/-? - c.3557-40T>A r.(=) p.(=) Parent #2 g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - DNA SEQ-NG-I 1 PrCa - M Chania, Crete - Greek no - 1 Despoina Kalfakakou
-?/-? - c.3557-40T>A r.(=) p.(=) Parent #2 g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - DNA SEQ-NG-I 1 PrCa, RCC - M Ilia Constantinople Greek no - 1 Despoina Kalfakakou
-?/-? - c.3557-40T>A r.(=) p.(=) Parent #2 g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - DNA SEQ-NG-I 1 CAL, NF - F Uzbekistan Georgia Greek no - 2 Despoina Kalfakakou
-?/-? - c.3557-40T>A r.(=) p.(=) Parent #2 g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - DNA SEQ-NG-I 1 BrainCa, TRC - F Zoodochos Pigi, Euboea Chalkida Greek no - 1 Despoina Kalfakakou
-?/-? - c.3557-40T>A r.(=) p.(=) Parent #2 g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - DNA SEQ-NG-I 1 Pheo - M Astros, Kynouria Amfilochia Greek no - 1 Despoina Kalfakakou
-?/-? - c.3557-40T>A r.(=) p.(=) Parent #2 g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - DNA SEQ-NG-I 1 - - F Zacharo, Ilia - Greek no - 1 Despoina Kalfakakou
-?/-? - c.3557-40T>A r.(=) p.(=) Parent #2 g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F - - Greek no - 1 Despoina Kalfakakou
-?/-? - c.3557-40T>A r.(=) p.(=) Parent #2 g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Corfu - Greek no - 1 Despoina Kalfakakou
-?/-? - c.3557-40T>A r.(=) p.(=) Parent #2 g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Mitilini Zacharo, Elis Greek no - 1 Despoina Kalfakakou
-?/-? - c.3557-40T>A r.(=) p.(=) Parent #2 g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Chios - Greek no - 1 Despoina Kalfakakou
-?/-? - c.3557-40T>A r.(=) p.(=) Parent #2 g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Agrinio - Greek no - 1 Despoina Kalfakakou
-?/-? - c.3557-40T>A r.(=) p.(=) Parent #2 g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Corfu Asia Minor & Euboea Greek no - 1 Despoina Kalfakakou
-?/-? - c.3557-40T>A r.(=) p.(=) Parent #2 g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Volos Farsala Greek no - 1 Despoina Kalfakakou
-?/-? - c.3557-40T>A r.(=) p.(=) Parent #2 g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
-?/-? - c.3557-40T>A r.(=) p.(=) Parent #2 g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Kyparissia, Messinia Santorini Greek no - 1 Despoina Kalfakakou
-?/-? - c.3557-40T>A r.(=) p.(=) Parent #2 g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Heraklion Sitia Greek no - 1 Despoina Kalfakakou
-?/-? - c.3557-40T>A r.(=) p.(=) Parent #2 g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Pontus - Greek no - 1 Despoina Kalfakakou
-?/-? - c.3557-40T>A r.(=) p.(=) Parent #2 g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Crete Chalkidiki Greek no - 1 Despoina Kalfakakou
-?/-? - c.3557-40T>A r.(=) p.(=) Parent #2 g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Levaia, Florina Asia Minor Greek no - 1 Despoina Kalfakakou
-?/-? - c.3557-40T>A r.(=) p.(=) Parent #2 g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
-?/-? - c.3557-40T>A r.(=) p.(=) Parent #2 g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Epirus Asia Minor & Euboea Greek no - 1 Despoina Kalfakakou
-?/-? - c.3557-40T>A r.(=) p.(=) Parent #2 g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Poland Epirus Greek no - 1 Despoina Kalfakakou
-?/-? - c.3557-40T>A r.(=) p.(=) Parent #2 g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Pontus - Greek no - 1 Despoina Kalfakakou
-?/-? - c.3557-40T>A r.(=) p.(=) Parent #2 g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Pontus ─░stanbul Greek no - 1 Despoina Kalfakakou
-?/-? - c.3557-40T>A r.(=) p.(=) Parent #2 g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Artemisio, Euboea Galatsades, Euboea Greek no - 3 Despoina Kalfakakou
-?/-? - c.3557-40T>A r.(=) p.(=) Parent #2 g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
-?/-? - c.3557-40T>A r.(=) p.(=) Parent #2 g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Kastania, Karditsa Athens Greek no - 2 Despoina Kalfakakou
-?/-? - c.3557-40T>A r.(=) p.(=) Parent #2 g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Caucasus, Russia & Asia Minor - Greek no - 1 Despoina Kalfakakou
-?/-? - c.3557-40T>A r.(=) p.(=) Parent #2 g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Kefalonia Constantinople Greek no - 2 Despoina Kalfakakou
-?/-? - c.3557-40T>A r.(=) p.(=) Parent #2 g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Aridaia, Pella Pella Greek no - 1 Despoina Kalfakakou
Legend