Full data view for gene MUTYH

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

27 entries on 1 page. Showing entries 1 - 27.
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.1178G>A r.(?) p.(Gly393Asp) Parent #2 g.45797228C>T - MUTYH_000007 rs36053993 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
+/+ - c.1178G>A r.(?) p.(Gly393Asp) Parent #2 g.45797228C>T - MUTYH_000007 rs36053993 - Germline - - - - DNA SEQ-NG-I 1 EnPol, OVCA - F Nafpaktia Mani Greek no - 2 Despoina Kalfakakou
+/+ - c.1178G>A r.(?) p.(Gly393Asp) Parent #2 g.45797228C>T - MUTYH_000007 rs36053993 - Germline - - - - DNA SEQ-NG-I 1 ColPol, CRC - M Agriani, Serres Gazoros, Serres Greek no - 1 Despoina Kalfakakou
+/+ - c.1178G>A r.(?) p.(Gly393Asp) Parent #2 g.45797228C>T - MUTYH_000007 rs36053993 - Germline - - - - DNA SEQ-NG-I 1 CRC - M Ilia - Greek no - 1 Despoina Kalfakakou
+/+ - c.1178G>A r.(?) p.(Gly393Asp) Parent #2 g.45797228C>T - MUTYH_000007 rs36053993 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F United Kingdom - English no - 1 Despoina Kalfakakou
+/+ - c.1178G>A r.(?) p.(Gly393Asp) Parent #2 g.45797228C>T - MUTYH_000007 rs36053993 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F - - Greek no - 2 Despoina Kalfakakou
+/+ - c.1178G>A r.(?) p.(Gly393Asp) Parent #2 g.45797228C>T - MUTYH_000007 rs36053993 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Pyrgos, Elis Heraklion Greek no - 1 Despoina Kalfakakou
+/+ - c.1178G>A r.(?) p.(Gly393Asp) Parent #2 g.45797228C>T - MUTYH_000007 rs36053993 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Vavouri, Thesprotia - Greek no - 4 Despoina Kalfakakou
+/+ - c.1178G>A r.(?) p.(Gly393Asp) Parent #2 g.45797228C>T - MUTYH_000007 rs36053993 - Germline - - - - DNA SEQ-NG-I 1 Schw - M Heraklion, Crete - Greek no - 1 Despoina Kalfakakou
+/+ - c.1178G>A r.(?) p.(Gly393Asp) Parent #2 g.45797228C>T - MUTYH_000007 rs36053993 - Germline - - - - DNA SEQ-NG-I 1 PNCA2 - M Karpathos - Greek no - 1 Despoina Kalfakakou
+/+ - c.1178G>A r.(?) p.(Gly393Asp) Parent #2 g.45797228C>T - MUTYH_000007 rs36053993 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Amfilochia - Greek no - 1 Despoina Kalfakakou
+/+ - c.1178G>A r.(?) p.(Gly393Asp) Parent #2 g.45797228C>T - MUTYH_000007 rs36053993 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Pontus ─░stanbul Greek no - 1 Despoina Kalfakakou
+/+ - c.1178G>A r.(?) p.(Gly393Asp) Parent #2 g.45797228C>T - MUTYH_000007 rs36053993 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Asia Minor - Greek no - 1 Despoina Kalfakakou
+/+ - c.1178G>A r.(?) p.(Gly393Asp) Parent #2 g.45797228C>T - MUTYH_000007 rs36053993 - Germline ? - - - DNA SEQ 0 Polyposis - M - - Greek no - 3 Despoina Kalfakakou
+/+ - c.1178G>A r.(?) p.(Gly393Asp) Parent #2 g.45797228C>T - MUTYH_000007 rs36053993 - Germline ? - - - DNA SEQ 0 Healthy/Control - F - - - no - 1 Despoina Kalfakakou
+/+ - c.1178G>A r.(?) p.(Gly393Asp) Paternal (confirmed) g.45797228C>T - MUTYH_000007 rs36053993 - Germline ? - - - DNA SEQ 0 Healthy/Control - M Messenia Athens Greek no - 1 Despoina Kalfakakou
+/+ - c.1178G>A r.(?) p.(Gly393Asp) Parent #2 g.45797228C>T - MUTYH_000007 rs36053993 - Germline - - - - DNA SEQ 1 Polyposis - M Messenia - Greek no - 2 Despoina Kalfakakou
+/+ - c.1178G>A r.(?) p.(Gly393Asp) Parent #2 g.45797228C>T - MUTYH_000007 rs36053993 - Germline ? - - - DNA SEQ 1 Polyposis - M Kallithea, Phthiotis Lichno, Phthiotis Greek no - 1 Despoina Kalfakakou
+/+ - c.1178G>A r.(?) p.(Gly393Asp) Parent #2 g.45797228C>T - MUTYH_000007 rs36053993 - Germline ? - - - DNA SEQ 1 Polyposis - F Kayseri, Cappadocia Kounavi, Crete Greek no - 4 Despoina Kalfakakou
+/+ - c.1178G>A r.(?) p.(Gly393Asp) Parent #2 g.45797228C>T - MUTYH_000007 rs36053993 - Germline - - - - DNA SEQ 0 ColPol - F Kayseri, Cappadocia Kounavi, Crete Greek no - 3 Despoina Kalfakakou
+/+ - c.1178G>A r.(?) p.(Gly393Asp) Maternal (confirmed) g.45797228C>T - MUTYH_000007 rs36053993 - Germline - - - - DNA SEQ 0 Healthy/Control - F Kayseri, Cappadocia Kounavi, Crete Greek no - 3 Despoina Kalfakakou
+/+ - c.1178G>A r.(?) p.(Gly393Asp) Parent #2 g.45797228C>T - MUTYH_000007 rs36053993 - Germline ? - - - DNA SEQ 1 CRC, Polyposis, TRC - F Vorizia, Crete - Greek no - 6 Despoina Kalfakakou
+/+ - c.1178G>A r.(?) p.(Gly393Asp) Parent #2 g.45797228C>T - MUTYH_000007 rs36053993 - Germline ? - - - DNA SEQ 0 Polyposis, RCC - M Vorizia, Crete - Greek no - 5 Despoina Kalfakakou
+/+ - c.1178G>A r.(?) p.(Gly393Asp) Parent #2 g.45797228C>T - MUTYH_000007 rs36053993 - Germline ? - - - DNA SEQ 0 ColPol, Polyposis - M Vorizia, Crete - Greek no - 5 Despoina Kalfakakou
+/+ - c.1178G>A r.(?) p.(Gly393Asp) Parent #2 g.45797228C>T - MUTYH_000007 rs36053993 - Germline ? - - - DNA SEQ 0 ColPol, TestCa - M Vorizia, Crete Magarikari, Crete Greek no - 5 Despoina Kalfakakou
+/+ - c.1178G>A r.(?) p.(Gly393Asp) Parent #2 g.45797228C>T - MUTYH_000007 rs36053993 - Germline ? - - - DNA SEQ 1 ColPol - F Braganca, Portugal - Portugese no - 1 Despoina Kalfakakou
+/+ - c.1178G>A r.(?) p.(Gly393Asp) Parent #2 g.45797228C>T - MUTYH_000007 rs36053993 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Drama Caucasus Greek no - 1 Despoina Kalfakakou
Legend