Full data view for gene SMARCB1

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

83 entries on 1 page. Showing entries 1 - 83.
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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.-31C>T r.(=) p.(=) Parent #2 g.24129326C>T - SMARCB1_000003 rs34276473 - - - DNA SEQ-NG-I 1 BrCa - F Filiatra, Messinia - Greek no - 1 Despoina Kalfakakou
./. - c.-31C>T r.(=) p.(=) Parent #2 g.24129326C>T - SMARCB1_000003 rs34276473 - - - DNA SEQ-NG-I 1 BrCa - F Mani - Greek no - 1 Despoina Kalfakakou
./. - c.-31C>T r.(=) p.(=) Parent #2 g.24129326C>T - SMARCB1_000003 rs34276473 - - - DNA SEQ-NG-I 1 PNCA2 - M Thiva - Greek no - 1 Despoina Kalfakakou
./. - c.-26T>C r.(=) p.(=) Parent #2 g.24129331T>C - SMARCB1_000016 - - - - DNA SEQ-NG-I 1 TRC - F - - Greek no - 1 Despoina Kalfakakou
./. - c.94-23G>T r.(=) p.(=) Parent #2 g.24133920G>T - SMARCB1_000026 - - - - DNA SEQ-NG-I 1 BrCa - F Alexandria, Egypt - Greek no - 1 Despoina Kalfakakou
./. - c.232+13G>A r.(=) p.(=) Parent #2 g.24134094G>A - SMARCB1_000024 - - - - DNA SEQ-NG-I 1 BrCa - F Thesprotia - Greek no - 1 Despoina Kalfakakou
./. - c.232+45C>G r.(=) p.(=) Parent #2 g.24134126C>G - SMARCB1_000022 - - - - DNA SEQ-NG-I 1 BrCa - F Filiates, Thesprotia Kanalaki, Preveza Greek no - 1 Despoina Kalfakakou
./. - c.233-7G>A r.(=) p.(=) Parent #2 g.24135739G>A - SMARCB1_000025 - - - - DNA SEQ-NG-I 1 BrCa - F Levaia, Florina Asia Minor Greek no - 1 Despoina Kalfakakou
./. - c.301G>A r.(?) p.(Asp101Asn) Parent #2 g.24135814G>A - SMARCB1_000021 - - - - DNA SEQ-NG-I 1 BrCa - F Lemnos - Greek no - 1 Despoina Kalfakakou
./. - c.362+7C>T r.(=) p.(=) Parent #2 g.24135882C>T - SMARCB1_000009 rs34746244 - - - DNA SEQ-NG-I 1 ColPol, CRC, GaPol - M Pyrgos, Laconia - Greek no - 1 Despoina Kalfakakou
./. - c.362+17C>A r.(=) p.(=) Parent #2 g.24135892C>A - SMARCB1_000023 - - - - DNA SEQ-NG-I 1 OVCA - F Russia Uzbekistan Greek no - 1 Despoina Kalfakakou
./. - c.438A>G r.(=) p.(=) Parent #2 g.24143206A>G - SMARCB1_000004 rs35105793 - - - DNA SEQ-NG-I 1 BrCa - F Filiatra, Messinia - Greek no - 1 Despoina Kalfakakou
./. - c.438A>G r.(=) p.(=) Parent #2 g.24143206A>G - SMARCB1_000004 rs35105793 - - - DNA SEQ-NG-I 1 BrCa - F Mani - Greek no - 1 Despoina Kalfakakou
./. - c.438A>G r.(=) p.(=) Parent #2 g.24143206A>G - SMARCB1_000004 rs35105793 - - - DNA SEQ-NG-I 1 PNCA2 - M Thiva - Greek no - 1 Despoina Kalfakakou
./. - c.493C>A r.(?) p.(Pro165Thr) Parent #2 g.24143261C>A - SMARCB1_000019 - - - - DNA SEQ-NG-I 1 ENC, OVCA - F Fragkata, Cephalonia - Greek no - 1 Despoina Kalfakakou
./. - c.500+24C>G r.(=) p.(=) Parent #2 g.24143292C>G - SMARCB1_000017 - - - - DNA SEQ-NG-I 1 RCC - F Kanalia, Magnesia Phylace, Magnesia Greek no - 1 Despoina Kalfakakou
./. - c.500+24C>G r.(=) p.(=) Parent #2 g.24143292C>G - SMARCB1_000017 - - - - DNA SEQ-NG-I 1 ENC, OVCA - F Mazaraki, Elis Preveza Greek no - 1 Despoina Kalfakakou
./. - c.500+30G>A r.(=) p.(=) Parent #2 g.24143298G>A - SMARCB1_000011 - - - - DNA SEQ-NG-I 1 BrCa - F Heraklion - Greek no - 1 Despoina Kalfakakou
./. - c.500+30G>A r.(=) p.(=) Parent #2 g.24143298G>A - SMARCB1_000011 - - - - DNA SEQ-NG-I 1 OVCA, RMSE2 - F Albania - Albanian no - 1 Despoina Kalfakakou
./. - c.500+40C>T r.(=) p.(=) Parent #2 g.24143308C>T - SMARCB1_000005 rs62642539 - - - DNA SEQ-NG-I 1 BrCa - F Pontus Evia Greek no - 1 Despoina Kalfakakou
./. - c.500+40C>T r.(=) p.(=) Parent #2 g.24143308C>T - SMARCB1_000005 rs62642539 - - - DNA SEQ-NG-I 1 BrCa - F Sparti Agios Petros, Cynuria Greek no - 1 Despoina Kalfakakou
./. - c.500+40C>T r.(=) p.(=) Parent #2 g.24143308C>T - SMARCB1_000005 rs62642539 - - - DNA SEQ-NG-I 1 BrCa - F Pyrgos, Elis Crete Greek no - 1 Despoina Kalfakakou
./. - c.500+40C>T r.(=) p.(=) Parent #2 g.24143308C>T - SMARCB1_000005 rs62642539 - - - DNA SEQ-NG-I 1 BrCa, SkCa - F Izmir Kos Greek no - 1 Despoina Kalfakakou
./. - c.500+40C>T r.(=) p.(=) Parent #2 g.24143308C>T - SMARCB1_000005 rs62642539 - - - DNA SEQ-NG-I 1 BrCa - F Arta Athens Greek no - 1 Despoina Kalfakakou
./. - c.500+40C>T r.(=) p.(=) Parent #2 g.24143308C>T - SMARCB1_000005 rs62642539 - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.500+40C>T r.(=) p.(=) Parent #2 g.24143308C>T - SMARCB1_000005 rs62642539 - - - DNA SEQ-NG-I 1 OVCA - F Korçë, Albania - Greek no - 1 Despoina Kalfakakou
./. - c.500+40C>T r.(=) p.(=) Parent #2 g.24143308C>T - SMARCB1_000005 rs62642539 - - - DNA SEQ-NG-I 1 OVCA - F Chania - Greek no - 1 Despoina Kalfakakou
./. - c.501-38G>A r.(=) p.(=) Parent #2 g.24145444G>A - SMARCB1_000018 - - - - DNA SEQ-NG-I 1 - - F Armenia Pontus Armenian-Greek no - 1 Despoina Kalfakakou
./. - c.501-23T>G r.(=) p.(=) Parent #2 g.24145459T>G - SMARCB1_000006 - - - - DNA SEQ-NG-I 1 OVCA - F Crete - Greek no - 2 Despoina Kalfakakou
./. - c.501-23T>G r.(=) p.(=) Parent #2 g.24145459T>G - SMARCB1_000006 - - - - DNA SEQ-NG-I 1 OVCA - F Evrytania - Greek no - 1 Despoina Kalfakakou
./. - c.501-23T>G r.(=) p.(=) Parent #2 g.24145459T>G - SMARCB1_000006 - - - - DNA SEQ-NG-I 1 BrCa, TRC - F Corfu Izmir Greek no - 2 Despoina Kalfakakou
./. - c.501-23T>G r.(=) p.(=) Parent #2 g.24145459T>G - SMARCB1_000006 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Thessaloniki Kavala Greek no - 1 Despoina Kalfakakou
./. - c.501-23T>G r.(=) p.(=) Parent #2 g.24145459T>G - SMARCB1_000006 - - - - DNA SEQ-NG-I 1 BrCa - F Aigaleo - Greek no - 3 Despoina Kalfakakou
./. - c.501-23T>G r.(=) p.(=) Parent #2 g.24145459T>G - SMARCB1_000006 - - - - DNA SEQ-NG-I 1 OVCA - F Agrinio - Greek no - 1 Despoina Kalfakakou
./. - c.501-23T>G r.(=) p.(=) Parent #2 g.24145459T>G - SMARCB1_000006 - - - - DNA SEQ-NG-I 1 ColPol, CRC - M Trikeri, Volos Volos Greek no - 1 Despoina Kalfakakou
./. - c.501-23T>G r.(=) p.(=) Parent #2 g.24145459T>G - SMARCB1_000006 - - - - DNA SEQ-NG-I 1 ColPol - M Kalamata Sparti Greek no - 1 Despoina Kalfakakou
./. - c.501-23T>G r.(=) p.(=) Parent #2 g.24145459T>G - SMARCB1_000006 - - - - DNA SEQ-NG-I 1 BrCa - F Vlachorafti, Arcadia Pyrgos, Diro, Laconia Greek no - 1 Despoina Kalfakakou
./. - c.501-23T>G r.(=) p.(=) Parent #2 g.24145459T>G - SMARCB1_000006 - - - - DNA SEQ-NG-I 1 BrCa, CMM2 - F Asia Minor Oreini Nafpaktia Greek no - 1 Despoina Kalfakakou
./. - c.501-23T>G r.(=) p.(=) Parent #2 g.24145459T>G - SMARCB1_000006 - - - - DNA SEQ-NG-I 1 - - M - - Greek no - 1 Despoina Kalfakakou
./. - c.501-23T>G r.(=) p.(=) Parent #2 g.24145459T>G - SMARCB1_000006 - - - - DNA SEQ-NG-I 1 AoVCa - M Chalkidiki - Greek no - 1 Despoina Kalfakakou
./. - c.501-23T>G r.(=) p.(=) Parent #2 g.24145459T>G - SMARCB1_000006 - - - - DNA SEQ-NG-I 1 - - F Proti, Serres Agiasos, Lesbos Greek no - 1 Despoina Kalfakakou
./. - c.501-23T>G r.(=) p.(=) Parent #2 g.24145459T>G - SMARCB1_000006 - - - - DNA SEQ-NG-I 1 PrCa - M Pontus - Greek no - 1 Despoina Kalfakakou
./. - c.501-23T>G r.(=) p.(=) Parent #2 g.24145459T>G - SMARCB1_000006 - - - - DNA SEQ-NG-I 1 GC - M Neapoli, Laconia Metsovo Greek-Romanian no - 1 Despoina Kalfakakou
./. - c.501-23T>G r.(=) p.(=) Parent #2 g.24145459T>G - SMARCB1_000006 - - - - DNA SEQ-NG-I 1 BrCa - F Kilkis Serres Greek no - 1 Despoina Kalfakakou
./. - c.501-23T>G r.(=) p.(=) Parent #2 g.24145459T>G - SMARCB1_000006 - - - - DNA SEQ-NG-I 1 OVCA - F Karpathos / Pontus Karpathos / Pontus Greek no - 1 Despoina Kalfakakou
./. - c.501-23T>G r.(=) p.(=) Parent #2 g.24145459T>G - SMARCB1_000006 - - - - DNA SEQ-NG-I 1 BrCa - F Kefalonia - Greek no - 1 Despoina Kalfakakou
./. - c.582G>A r.(=) p.(=) Parent #2 g.24145563G>A - SMARCB1_000008 - - - - DNA SEQ-NG-I 1 BrCa - F - - Greek no - 1 Despoina Kalfakakou
./. - c.628+13C>T r.(=) p.(=) Parent #2 g.24145622C>T - SMARCB1_000001 - - - - DNA SEQ-NG-I 1 OVCA - F Lefkada Zakynthos Greek no - 1 Despoina Kalfakakou
./. - c.628+13C>T r.(=) p.(=) Parent #2 g.24145622C>T - SMARCB1_000001 - - - - DNA SEQ-NG-I 1 BrCa - F Athens - Greek no - 1 Despoina Kalfakakou
./. - c.628+13C>T r.(=) p.(=) Parent #2 g.24145622C>T - SMARCB1_000001 - - - - DNA SEQ-NG-I 1 ColPol, CRC - M Avlonas, Trifylia - Greek no - 1 Despoina Kalfakakou
./. - c.628+13C>T r.(=) p.(=) Parent #2 g.24145622C>T - SMARCB1_000001 - - - - DNA SEQ-NG-I 1 BrCa - F Tripoli - Greek no - 1 Despoina Kalfakakou
./. - c.628+13C>T r.(=) p.(=) Parent #2 g.24145622C>T - SMARCB1_000001 - - - - DNA SEQ-NG-I 1 OVCA - F Agios Vlasios, Boeotia Davleia, Boeotia Greek no - 1 Despoina Kalfakakou
./. - c.628+13C>T r.(=) p.(=) Parent #2 g.24145622C>T - SMARCB1_000001 - - - - DNA SEQ-NG-I 1 OVCA - F Pontus - Greek no - 1 Despoina Kalfakakou
./. - c.628+13C>T r.(=) p.(=) Parent #2 g.24145622C>T - SMARCB1_000001 - - - - DNA SEQ-NG-I 1 RCC - M Karditsa - Greek no - 1 Despoina Kalfakakou
./. - c.628+13C>T r.(=) p.(=) Parent #2 g.24145622C>T - SMARCB1_000001 - - - - DNA SEQ-NG-I 1 BrCa - F Aghios Nicolaos Kritsa Greek no - 1 Despoina Kalfakakou
./. - c.628+13C>T r.(=) p.(=) Parent #2 g.24145622C>T - SMARCB1_000001 - - - - DNA SEQ-NG-I 1 BrCa - F Pili, Trikala - Greek no - 1 Despoina Kalfakakou
./. - c.628+13C>T r.(=) p.(=) Parent #2 g.24145622C>T - SMARCB1_000001 - - - - DNA SEQ-NG-I 1 BrCa - F Koynina, Aigio Kerinia, Aigio Greek no - 1 Despoina Kalfakakou
./. - c.629-47C>T r.(=) p.(=) Parent #2 g.24158910C>T - SMARCB1_000012 - - - - DNA SEQ-NG-I 1 OVCA - F Neochori, Elis Lithochori, Evrytania Greek no - 1 Despoina Kalfakakou
./. - c.629-47C>T r.(=) p.(=) Parent #2 g.24158910C>T - SMARCB1_000012 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Heraklion - Greek no - 1 Despoina Kalfakakou
./. - c.796-49T>C r.(=) p.(=) Parent #2 g.24167363T>C - SMARCB1_000015 - - - - DNA SEQ-NG-I 1 BrCa - F Corinth Evia Greek no - 1 Despoina Kalfakakou
./. - c.852A>G r.(=) p.(=) Parent #2 g.24167468A>G - SMARCB1_000013 - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor Evrytania Greek no - 1 Despoina Kalfakakou
./. - c.852A>G r.(=) p.(=) Parent #2 g.24167468A>G - SMARCB1_000013 - - - - DNA SEQ-NG-I 1 GC - M Albania - Albanian no - 1 Despoina Kalfakakou
./. - c.1032C>T r.(=) p.(=) Parent #2 g.24175804C>T - SMARCB1_000014 - - - - DNA SEQ-NG-I 1 OVCA - F Lesbos - Greek no - 1 Despoina Kalfakakou
./. - c.1032C>T r.(=) p.(=) Parent #2 g.24175804C>T - SMARCB1_000014 - - - - DNA SEQ-NG-I 1 BrCa - F Kiato, Corinth Throfari, Corinth Greek no - 1 Despoina Kalfakakou
./. - c.1118+52A>G r.(=) p.(=) Parent #2 g.24175942A>G - SMARCB1_000007 - - - - DNA SEQ-NG-I 1 OVCA - F Tithorea, Livadia Edessa Greek no - 3 Despoina Kalfakakou
./. - c.1118+52A>G r.(=) p.(=) Parent #2 g.24175942A>G - SMARCB1_000007 - - - - DNA SEQ-NG-I 1 OVCA - F Albania - Greek no - 1 Despoina Kalfakakou
./. - c.1118+52A>G r.(=) p.(=) Parent #2 g.24175942A>G - SMARCB1_000007 - - - - DNA SEQ-NG-I 1 BrCa, ColPol, SkCa, TRC - F Stolos, Kynouria Elaiochorio, Kynouria Greek no - 1 Despoina Kalfakakou
./. - c.1118+52A>G r.(=) p.(=) Parent #2 g.24175942A>G - SMARCB1_000007 - - - - DNA SEQ-NG-I 1 OVCA - F Samos Chios Greek no - 1 Despoina Kalfakakou
./. - c.1118+52A>G r.(=) p.(=) Parent #2 g.24175942A>G - SMARCB1_000007 - - - - DNA SEQ-NG-I 1 BrCa - F Elbasan, Albania - Albanian no - 1 Despoina Kalfakakou
./. - c.1118+52A>G r.(=) p.(=) Parent #2 g.24175942A>G - SMARCB1_000007 - - - - DNA SEQ-NG-I 1 BrCa - F Chania - Greek no - 3 Despoina Kalfakakou
./. - c.1118+52A>G r.(=) p.(=) Parent #2 g.24175942A>G - SMARCB1_000007 - - - - DNA SEQ-NG-I 1 BrCa - F Serres Alexandroupoli Greek no - 1 Despoina Kalfakakou
./. - c.1118+52A>G r.(=) p.(=) Parent #2 g.24175942A>G - SMARCB1_000007 - - - - DNA SEQ-NG-I 1 GC - F Kilada, Argolis - Greek no - 1 Despoina Kalfakakou
./. - c.1118+52A>G r.(=) p.(=) Parent #2 g.24175942A>G - SMARCB1_000007 - - - - DNA SEQ-NG-I 1 AGCa, TRC - F Livadia Petroupoli, Attika Greek no - 1 Despoina Kalfakakou
./. - c.1118+52A>G r.(=) p.(=) Parent #2 g.24175942A>G - SMARCB1_000007 - - - - DNA SEQ-NG-I 1 Pheo - M Astros, Kynouria Amfilochia Greek no - 1 Despoina Kalfakakou
./. - c.1118+52A>G r.(=) p.(=) Parent #2 g.24175942A>G - SMARCB1_000007 - - - - DNA SEQ-NG-I 1 BrCa - F - - Greek no - 1 Despoina Kalfakakou
./. - c.1118+52A>G r.(=) p.(=) Parent #2 g.24175942A>G - SMARCB1_000007 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.1118+52A>G r.(=) p.(=) Parent #2 g.24175942A>G - SMARCB1_000007 - - - - DNA SEQ-NG-I 1 OVCA - F Athens Phthiotis Greek no - 1 Despoina Kalfakakou
./. - c.1119-30G>A r.(=) p.(=) Parent #2 g.24176298G>A - SMARCB1_000010 - - - - DNA SEQ-NG-I 1 BrCa - F Andros - Greek no - 1 Despoina Kalfakakou
./. - c.1131T>C r.(=) p.(=) Parent #2 g.24176340T>C - SMARCB1_000027 - - - - DNA SEQ-NG-I 1 BrCa - F Pyrgos, Elis - Greek no - 1 Despoina Kalfakakou
./. - c.*18G>A r.(=) p.(=) Parent #2 g.24176385G>A - SMARCB1_000020 - - - - DNA SEQ-NG-I 1 CMM3, OVCA - F Boeotia Athens Greek no - 1 Despoina Kalfakakou
./. - c.*27G>A r.(=) p.(=) Parent #2 g.24176394G>A - SMARCB1_000002 - - - - DNA SEQ-NG-I 1 BrCa - F Rizolimilio, Aigio Valtetsiniko Greek no - 1 Despoina Kalfakakou
./. - c.*27G>A r.(=) p.(=) Parent #2 g.24176394G>A - SMARCB1_000002 - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor Elis Greek no - 1 Despoina Kalfakakou
./. - c.*27G>A r.(=) p.(=) Parent #2 g.24176394G>A - SMARCB1_000002 - - - - DNA SEQ-NG-I 1 OVCA - F Elis - Greek no - 1 Despoina Kalfakakou
Legend