Full data view for gene TMEM127

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

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Genetic origin     

Segregation     

Is Greek Founder     

Template     

Technique     

Type     

Disease     

Reference     

Gender     

Geographic origin     

Geographic origin     

Population     

Consanguinity     

Remarks     

Panel size     

Owner     
./. - c.-10G>C r.(=) p.(=) Parent #2 g.96931129C>G - TMEM127_000002 - - - - DNA SEQ-NG-I 1 BrCa - F Athens Pyrgos, Elis Greek no - 1 Despoina Kalfakakou
./. - c.40C>G r.(?) p.(Arg14Gly) Parent #2 g.96931080G>C - TMEM127_000013 - - - - DNA SEQ-NG-I 1 OVCA - F Athens Samos Greek no - 1 Despoina Kalfakakou
./. - c.154G>T r.(?) p.(Ala52Ser) Parent #2 g.96930966C>A - TMEM127_000009 - - - - DNA SEQ-NG-I 1 BrCa - F Karditsa Ioannina Greek no - 1 Despoina Kalfakakou
./. - c.154G>T r.(?) p.(Ala52Ser) Parent #2 g.96930966C>A - TMEM127_000009 - - - - DNA SEQ-NG-I 1 BrCa - F Livadeia - Greek no - 1 Despoina Kalfakakou
./. - c.213G>A r.(=) p.(=) Parent #2 g.96930907C>T - TMEM127_000006 - - - - DNA SEQ-NG-I 1 CRC - M Pontus Asia Minor Greek no - 1 Despoina Kalfakakou
./. - c.245-45C>G r.(=) p.(=) Parent #2 g.96920780G>C - TMEM127_000008 - - - - DNA SEQ-NG-I 1 OVCA - F Lesbos - Greek no - 1 Despoina Kalfakakou
./. - c.245A>G r.(?) p.(Asp82Gly) Parent #2 g.96920735T>C - TMEM127_000007 - - - - DNA SEQ-NG-I 1 ColPol, CRC - F Asia Minor - Greek no - 1 Despoina Kalfakakou
./. - c.245A>G r.(?) p.(Asp82Gly) Parent #2 g.96920735T>C - TMEM127_000007 - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor - Greek no - 2 Despoina Kalfakakou
./. - c.267A>G r.(=) p.(=) Parent #2 g.96920713T>C - TMEM127_000003 - - - - DNA SEQ-NG-I 1 BrCa - F Corinth Zante Greek no - 1 Despoina Kalfakakou
./. - c.267A>G r.(=) p.(=) Parent #2 g.96920713T>C - TMEM127_000003 - - - - DNA SEQ-NG-I 1 BrCa - F Santorini Rhodes Greek no - 1 Despoina Kalfakakou
./. - c.292G>A r.(?) p.(Ala98Thr) Parent #2 g.96920688C>T - TMEM127_000005 - - - - DNA SEQ-NG-I 1 BrCa - F Glossa, Skopelos - Greek no - 2 Despoina Kalfakakou
./. - c.333C>T r.(=) p.(=) Parent #2 g.96920647G>A - TMEM127_000010 - - - - DNA SEQ-NG-I 1 AGCa - F Karya, Larisa Chavdata, Kephallinia Greek no - 1 Despoina Kalfakakou
./. - c.393C>T r.(=) p.(=) Parent #2 g.96920587G>A - TMEM127_000012 - - - - DNA SEQ-NG-I 1 OVCA - F Karditsa - Greek no - 1 Despoina Kalfakakou
./. - c.394G>A r.(?) p.(Ala132Thr) Parent #2 g.96920586C>T - TMEM127_000004 - - - - DNA SEQ-NG-I 1 BrCa - F Kalamata Izmir Greek no - 5 Despoina Kalfakakou
./. - c.394G>A r.(?) p.(Ala132Thr) Parent #2 g.96920586C>T - TMEM127_000004 - - - - DNA SEQ-NG-I 1 AGCa, TRC - F Livadia Petroupoli, Attika Greek no - 1 Despoina Kalfakakou
./. - c.394G>A r.(?) p.(Ala132Thr) Parent #2 g.96920586C>T - TMEM127_000004 - - - - DNA SEQ-NG-I 1 BrCa - F Constantinople Volos Greek no - 1 Despoina Kalfakakou
./. - c.394G>A r.(?) p.(Ala132Thr) Parent #2 g.96920586C>T - TMEM127_000004 - - - - DNA SEQ-NG-I 1 OVCA - F Thessaloniki - Greek no - 1 Despoina Kalfakakou
./. - c.409+7C>T r.(=) p.(=) Parent #2 g.96920564G>A - TMEM127_000001 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.409+7C>T r.(=) p.(=) Parent #2 g.96920564G>A - TMEM127_000001 - - - - DNA SEQ-NG-I 1 BrCa - F Messinia Karditsa Greek no - 1 Despoina Kalfakakou
./. - c.409+7C>T r.(=) p.(=) Parent #2 g.96920564G>A - TMEM127_000001 - - - - DNA SEQ-NG-I 1 CRC - M Neos Marmaras, Halkidiki Serres Greek no - 1 Despoina Kalfakakou
./. - c.409+7C>T r.(=) p.(=) Parent #2 g.96920564G>A - TMEM127_000001 - - - - DNA SEQ-NG-I 1 BrCa - F Izmir Peloponnese Greek no - 1 Despoina Kalfakakou
./. - c.409+7C>T r.(=) p.(=) Parent #2 g.96920564G>A - TMEM127_000001 - - - - DNA SEQ-NG-I 1 BrCa - F Volos - Greek no - 1 Despoina Kalfakakou
./. - c.409+7C>T r.(=) p.(=) Parent #2 g.96920564G>A - TMEM127_000001 - - - - DNA SEQ-NG-I 1 BrCa - F Amyntaio - Greek no - 1 Despoina Kalfakakou
./. - c.565C>T r.(=) p.(=) Parent #2 g.96919698G>A - TMEM127_000011 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
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