Full data view for gene RECQL4

Information The variants shown are described using the NM_004260.3 transcript reference sequence.

675 entries on 7 pages. Showing entries 1 - 100.
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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.14G>T - p.? Parent #2 g.145743155C>A - RECQL4_000143 - - - - DNA SEQ-NG-I 1 AML, BrCa - F Athens - Greek no - 1 Despoina Kalfakakou
./. - c.25G>A - p.? Parent #2 g.145743144C>T - RECQL4_000102 - - - - DNA SEQ-NG-I 1 CRC - F Zimbabwe - Zimbabwe no - 1 Despoina Kalfakakou
./. - c.37G>T - p.? Parent #2 g.145743132C>A - RECQL4_000133 - - - - DNA SEQ-NG-I 1 BrCa - F Arcadia Laconia Greek no - 1 Despoina Kalfakakou
./. - c.52T>C - p.? Parent #2 g.145743117A>G - RECQL4_000101 - - - - DNA SEQ-NG-I 1 ColPol, GaPol, TRC - F Elefsina Kalymnos Greek no - 1 Despoina Kalfakakou
./. - c.55C>G - p.? Parent #2 g.145743114G>C - RECQL4_000182 - - - - DNA SEQ-NG-I 1 BrCa - F Italy - Italian no - 1 Despoina Kalfakakou
./. - c.118+43C>T - p.? Parent #2 g.145742943G>A - RECQL4_000201 - - - - DNA SEQ-NG-I 1 BrCa - F Armenia Heraklion Greek no - 1 Despoina Kalfakakou
./. - c.119-42C>T - p.? Parent #2 g.145742934G>A - RECQL4_000194 - - - - DNA SEQ-NG-I 1 OVCA - F Ethiopia - Greek no - 1 Despoina Kalfakakou
./. - c.119-17C>T - p.? Parent #2 g.145742909G>A - RECQL4_000189 - - - - DNA SEQ-NG-I 1 OVCA - F Hydra Thera Greek no - 1 Despoina Kalfakakou
./. - c.161A>G - p.? Parent #2 g.145742850T>C - RECQL4_000100 rs35198096 - - - DNA SEQ-NG-I 1 BrCa, ColPol - F Volos - Greek no - 1 Despoina Kalfakakou
./. - c.161A>G - p.? Parent #2 g.145742850T>C - RECQL4_000100 rs35198096 - - - DNA SEQ-NG-I 1 BrCa - F Geraneia, Elassona - Greek no - 1 Despoina Kalfakakou
./. - c.161A>G - p.? Parent #2 g.145742850T>C - RECQL4_000100 rs35198096 - - - DNA SEQ-NG-I 1 BrCa - F Drama Thessaloniki Greek no - 1 Despoina Kalfakakou
./. - c.161A>G - p.? Parent #2 g.145742850T>C - RECQL4_000100 rs35198096 - - - DNA SEQ-NG-I 1 BrCa - F Constantinople Alexandria, Egypt Greek no - 1 Despoina Kalfakakou
./. - c.161A>G - p.? Parent #2 g.145742850T>C - RECQL4_000100 rs35198096 - - - DNA SEQ-NG-I 1 AoVCa - M Chalkidiki - Greek no - 1 Despoina Kalfakakou
./. - c.161A>G - p.? Parent #2 g.145742850T>C - RECQL4_000100 rs35198096 - - - DNA SEQ-NG-I 1 CRC, OVCA - F Asia Minor Rethimno Greek no - 1 Despoina Kalfakakou
./. - c.195C>G - p.? Parent #2 g.145742816G>C - RECQL4_000217 - - - - DNA SEQ-NG-I 1 OVCA - F Nea Figaleia, Elis Taxiarchis, Olympia Greek no - 1 Despoina Kalfakakou
./. - c.213+6del - p.? Parent #2 g.145742792del - RECQL4_000178 - - - - DNA SEQ-NG-I 1 PNCA2 - M Phocis Athes Greek no - 1 Despoina Kalfakakou
./. - c.213+6del - p.? Parent #2 g.145742792del - RECQL4_000178 - - - - DNA SEQ-NG-I 1 OVCA - F Macedonia/Pontus Macedonia/Asia Minor Greek no - 1 Despoina Kalfakakou
./. - c.214-5T>G r.spl? p.? Parent #2 g.145742579A>C - RECQL4_000052 - - - - DNA SEQ-NG-I 1 OVCA - F Pyrgos, Elis - Greek no - 1 Despoina Kalfakakou
./. - c.251G>A - p.? Parent #2 g.145742537C>T - RECQL4_000188 - - - - DNA SEQ-NG-I 1 OVCA - F Thrace & Epirus ─░zmir Greek no - 1 Despoina Kalfakakou
./. - c.255T>G - p.? Parent #2 g.145742533A>C - RECQL4_000210 - - - - DNA SEQ-NG-I 1 BrCa - F Vagia, Thebes Ioannina Greek no - 1 Despoina Kalfakakou
./. - c.300C>T - p.? Parent #2 g.145742488G>A - RECQL4_000068 rs34496005 - - - DNA SEQ-NG-I 1 BrCa - F Messinia - Greek no - 4 Despoina Kalfakakou
./. - c.300C>T - p.? Parent #2 g.145742488G>A - RECQL4_000068 rs34496005 - - - DNA SEQ-NG-I 1 OVCA - F Tinos & Kythira Chios & Asia Minor Greek no - 1 Despoina Kalfakakou
./. - c.309G>A - p.? Parent #2 g.145742479C>T - RECQL4_000032 rs4251688 - - - DNA SEQ-NG-I 1 BrCa - F Marathonas Athens Greek no - 2 Despoina Kalfakakou
./. - c.309G>A - p.? Parent #2 g.145742479C>T - RECQL4_000032 rs4251688 - - - DNA SEQ-NG-I 1 BrCa - F Argos - Greek no - 1 Despoina Kalfakakou
./. - c.309G>A - p.? Parent #2 g.145742479C>T - RECQL4_000032 rs4251688 - - - DNA SEQ-NG-I 1 BrCa - F Athens Kalamata Greek no - 1 Despoina Kalfakakou
./. - c.309G>A - p.? Parent #2 g.145742479C>T - RECQL4_000032 rs4251688 - - - DNA SEQ-NG-I 1 BrCa - F Kos Kalymnos Greek no - 1 Despoina Kalfakakou
./. - c.309G>A - p.? Parent #2 g.145742479C>T - RECQL4_000032 rs4251688 - - - DNA SEQ-NG-I 1 - - F Platanos, Crete - Greek no - 2 Despoina Kalfakakou
./. - c.309G>A - p.? Parent #2 g.145742479C>T - RECQL4_000032 rs4251688 - - - DNA SEQ-NG-I 1 - - F Platanos, Crete - Greek no - 3 Despoina Kalfakakou
./. - c.309G>A - p.? Parent #2 g.145742479C>T - RECQL4_000032 rs4251688 - - - DNA SEQ-NG-I 1 PrCa - M Armenades, Corfu - Greek no - 1 Despoina Kalfakakou
./. - c.309G>A - p.? Parent #2 g.145742479C>T - RECQL4_000032 rs4251688 - - - DNA SEQ-NG-I 1 ALL, BrCa - F Filiatra, Messinia - Greek no - 1 Despoina Kalfakakou
./. - c.309G>A - p.? Parent #2 g.145742479C>T - RECQL4_000032 rs4251688 - - - DNA SEQ-NG-I 1 OVCA - F Lefkada - Greek no - 1 Despoina Kalfakakou
./. - c.309G>A - p.? Parent #2 g.145742479C>T - RECQL4_000032 rs4251688 - - - DNA SEQ-NG-I 1 BrCa - F Kefalonia - Greek no - 1 Despoina Kalfakakou
./. - c.355-37C>T - p.? Parent #2 g.145742185G>A - RECQL4_000067 rs34116880 - - - DNA SEQ-NG-I 1 BrCa - F Messinia - Greek no - 4 Despoina Kalfakakou
./. - c.355-37C>T - p.? Parent #2 g.145742185G>A - RECQL4_000067 rs34116880 - - - DNA SEQ-NG-I 1 OVCA - F Tinos & Kythira Chios & Asia Minor Greek no - 1 Despoina Kalfakakou
./. - c.355-24G>A - p.? Parent #2 g.145742172C>T - RECQL4_000128 rs35058172 - - - DNA SEQ-NG-I 1 BrCa - F Amfilochia Xiromero, Aetolia-Acarnania Greek no - 1 Despoina Kalfakakou
./. - c.355-24G>A - p.? Parent #2 g.145742172C>T - RECQL4_000128 rs35058172 - - - DNA SEQ-NG-I 1 ENC, EnPol - F Samos - Greek no - 1 Despoina Kalfakakou
./. - c.355-24G>A - p.? Parent #2 g.145742172C>T - RECQL4_000128 rs35058172 - - - DNA SEQ-NG-I 1 CRC, OVCA - F Asia Minor Rethimno Greek no - 1 Despoina Kalfakakou
./. - c.355-24G>C - p.? Parent #1 g.145742172C>G - RECQL4_000212 rs35058172 - - - DNA SEQ-NG-I 1 CRC, OVCA - F Asia Minor Rethimno Greek no - 1 Despoina Kalfakakou
./. - c.355-8C>T - p.? Parent #2 g.145742156G>A - RECQL4_000117 - - - - DNA SEQ-NG-I 1 BrCa - F Dafnias Agrinio Greek no - 1 Despoina Kalfakakou
./. - c.391G>C - p.? Parent #2 g.145742112C>G - RECQL4_000125 - - - - DNA SEQ-NG-I 1 BrCa, CMM2 - F Asia Minor Oreini Nafpaktia Greek no - 1 Despoina Kalfakakou
./. - c.465C>G - p.? Parent #2 g.145742038G>C - RECQL4_000116 - - - - DNA SEQ-NG-I 1 CUP - F Kymi, Evia Limni, Evia Greek no - 1 Despoina Kalfakakou
./. - c.465C>G - p.? Parent #2 g.145742038G>C - RECQL4_000116 - - - - DNA SEQ-NG-I 1 BrCa - F Kymi, Evia Limni, Evia Greek no - 2 Despoina Kalfakakou
./. - c.465C>G - p.? Parent #2 g.145742038G>C - RECQL4_000116 - - - - DNA SEQ-NG-I 1 OVCA - F Ethiopia - Greek no - 1 Despoina Kalfakakou
./. - c.514C>T - p.? Parent #2 g.145741989G>A - RECQL4_000099 - - - - DNA SEQ-NG-I 1 CRC - F Zimbabwe - Zimbabwe no - 1 Despoina Kalfakakou
./. - c.535C>T - p.? Parent #2 g.145741968G>A - RECQL4_000066 - - - - DNA SEQ-NG-I 1 BrCa - F Peloponnese - Greek no - 1 Despoina Kalfakakou
./. - c.535C>T - p.? Parent #2 g.145741968G>A - RECQL4_000066 - - - - DNA SEQ-NG-I 1 OVCA - F Gargalianoi Messenia Athens & Kalavryta Greek no - 1 Despoina Kalfakakou
./. - c.539G>A - p.? Parent #2 g.145741964C>T - RECQL4_000187 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.539G>A - p.? Parent #2 g.145741964C>T - RECQL4_000187 - - - - DNA SEQ-NG-I 1 BrCa - F Zarko, Trikala - Greek no - 1 Despoina Kalfakakou
./. - c.543G>A - p.? Parent #2 g.145741960C>T - RECQL4_000084 rs34159914 - - - DNA SEQ-NG-I 1 CRC, GaPol - F Chania, Crete Euboea Greek no - 1 Despoina Kalfakakou
./. - c.543G>A - p.? Parent #2 g.145741960C>T - RECQL4_000084 rs34159914 - - - DNA SEQ-NG-I 1 CRC - M Derveni, Corinthia - Greek no - 2 Despoina Kalfakakou
./. - c.543G>A - p.? Parent #2 g.145741960C>T - RECQL4_000084 rs34159914 - - - DNA SEQ-NG-I 1 OVCA - F Eastern Thrace - Greek no - 1 Despoina Kalfakakou
./. - c.543G>A - p.? Parent #2 g.145741960C>T - RECQL4_000084 rs34159914 - - - DNA SEQ-NG-I 1 BrCa - F Istiaia, Evia Grammatiko, Aetolia-Acarnania Greek no - 1 Despoina Kalfakakou
./. - c.543G>A - p.? Parent #2 g.145741960C>T - RECQL4_000084 rs34159914 - - - DNA SEQ-NG-I 1 BrCa, EnPol - F Aigio - Greek no - 3 Despoina Kalfakakou
./. - c.543G>A - p.? Parent #2 g.145741960C>T - RECQL4_000084 rs34159914 - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Polikarpi, Pella Chania Greek no - 1 Despoina Kalfakakou
./. - c.543G>A - p.? Parent #2 g.145741960C>T - RECQL4_000084 rs34159914 - - - DNA SEQ-NG-I 1 BrCa - F Athens - Greek no - 1 Despoina Kalfakakou
./. - c.543G>A - p.? Parent #2 g.145741960C>T - RECQL4_000084 rs34159914 - - - DNA SEQ-NG-I 1 BrCa - F Velesiotes, Domokos Ano Agoriani, Domokos Greek no - 3 Despoina Kalfakakou
./. - c.543G>A - p.? Parent #2 g.145741960C>T - RECQL4_000084 rs34159914 - - - DNA SEQ-NG-I 1 OVCA - F Zoodochos, Ioannina - Greek no - 1 Despoina Kalfakakou
./. - c.543G>A - p.? Parent #2 g.145741960C>T - RECQL4_000084 rs34159914 - - - DNA SEQ-NG-I 1 - - F - - Greek no - 1 Despoina Kalfakakou
./. - c.543G>A - p.? Parent #2 g.145741960C>T - RECQL4_000084 rs34159914 - - - DNA SEQ-NG-I 1 OBT, PNCA2 - M Edessa Pentapoli, Serres Greek no - 1 Despoina Kalfakakou
./. - c.543G>A - p.? Parent #2 g.145741960C>T - RECQL4_000084 rs34159914 - - - DNA SEQ-NG-I 1 BrCa - F Trikala Larisa Greek no - 1 Despoina Kalfakakou
./. - c.543G>A - p.? Parent #2 g.145741960C>T - RECQL4_000084 rs34159914 - - - DNA SEQ-NG-I 1 OVCA - F Bulgaria Bulgaria / Northern Greece Greek no - 1 Despoina Kalfakakou
./. - c.543G>A - p.? Parent #2 g.145741960C>T - RECQL4_000084 rs34159914 - - - DNA SEQ-NG-I 1 BrCa - F Karya, Elassona Kallipefki, Larisa Greek no - 1 Despoina Kalfakakou
./. - c.563C>T - p.? Parent #2 g.145741940G>A - RECQL4_000200 - - - - DNA SEQ-NG-I 1 BrCa - F Skoytera, Agrinio - Greek no - 1 Despoina Kalfakakou
./. - c.615C>G - p.? Parent #2 g.145741888G>C - RECQL4_000051 rs35639991 - - - DNA SEQ-NG-I 1 BrCa - F Megalopoli, Arcadia Chania Greek no - 4 Despoina Kalfakakou
./. - c.666T>C - p.? Parent #2 g.145741837A>G - RECQL4_000089 - - - - DNA SEQ-NG-I 1 BrCa - F Kali Komi, Karditsa - Greek no - 1 Despoina Kalfakakou
./. - c.705G>A - p.? Parent #2 g.145741798C>T - RECQL4_000124 - - - - DNA SEQ-NG-I 1 OVCA - F Symi Leros Greek no - 1 Despoina Kalfakakou
./. - c.711A>G - p.? Parent #2 g.145741792T>C - RECQL4_000123 - - - - DNA SEQ-NG-I 1 BrCa - F Argostoli - Greek no - 1 Despoina Kalfakakou
./. - c.716C>T - p.? Parent #2 g.145741787G>A - RECQL4_000031 - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Corfu - Greek no - 5 Despoina Kalfakakou
./. - c.716C>T - p.? Parent #2 g.145741787G>A - RECQL4_000031 - - - - DNA SEQ-NG-I 1 BladCa, CRC, PrCa - M Kamenianoi, Kalavryta - Greek no - 1 Despoina Kalfakakou
./. - c.716C>T - p.? Parent #2 g.145741787G>A - RECQL4_000031 - - - - DNA SEQ-NG-I 1 BrCa - F Morocco - Moroccan no - 1 Despoina Kalfakakou
./. - c.816C>G - p.? Parent #2 g.145741687G>C - RECQL4_000030 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.816C>G - p.? Parent #2 g.145741687G>C - RECQL4_000030 - - - - DNA SEQ-NG-I 1 BrCa - F Kali Vrisi, Drama - Greek no - 1 Despoina Kalfakakou
./. - c.817G>A - p.? Parent #2 g.145741686C>T - RECQL4_000155 rs34103564 - - - DNA SEQ-NG-I 1 - - M - - Greek no - 1 Despoina Kalfakakou
./. - c.817G>A - p.? Parent #2 g.145741686C>T - RECQL4_000155 rs34103564 - - - DNA SEQ-NG-I 1 OVCA - F Chania - Greek no - 1 Despoina Kalfakakou
./. - c.862G>A - p.? Parent #2 g.145741641C>T - RECQL4_000029 - - - - DNA SEQ-NG-I 1 BrCa - F Filiatra, Messinia Zacharo, Elis Greek no - 1 Despoina Kalfakakou
./. - c.862G>A - p.? Parent #2 g.145741641C>T - RECQL4_000029 - - - - DNA SEQ-NG-I 1 BrCa - F Messinia - Greek no - 1 Despoina Kalfakakou
./. - c.970C>T - p.? Parent #2 g.145741533G>A - RECQL4_000090 - - - - DNA SEQ-NG-I 1 BrCa - F Istiaia, Evia Grammatiko, Aetolia-Acarnania Greek no - 1 Despoina Kalfakakou
./. - c.1071C>T - p.? Parent #2 g.145741432G>A - RECQL4_000163 - - - - DNA SEQ-NG-I 1 GC - F Nigrita Serres Greek no - 1 Despoina Kalfakakou
./. - c.1085A>G - p.? Parent #2 g.145741418T>C - RECQL4_000223 - - - - DNA SEQ-NG-I 1 BrCa - F Peta, Artas - Greek no - 1 Despoina Kalfakakou
./. - c.1086C>G - p.? Parent #2 g.145741417G>C - RECQL4_000115 - - - - DNA SEQ-NG-I 1 CRC - M Pontus Asia Minor Greek no - 1 Despoina Kalfakakou
./. - c.1090G>A - p.? Parent #2 g.145741413C>T - RECQL4_000216 - - - - DNA SEQ-NG-I 1 OVCA - F Nea Figaleia, Elis Taxiarchis, Olympia Greek no - 1 Despoina Kalfakakou
./. - c.1131+42C>T - p.? Parent #2 g.145741330G>A - RECQL4_000118 - - - - DNA SEQ-NG-I 1 Healthy/Control - M Athens - Greek no - 1 Despoina Kalfakakou
./. - c.1131+44del - p.? Parent #2 g.145741328del - RECQL4_000199 - - - - DNA SEQ-NG-I 1 BrCa - F Piraeus Kalamata Greek no - 1 Despoina Kalfakakou
./. - c.1132-27T>C - p.? Parent #2 g.145741301A>G - RECQL4_000028 - - - - DNA SEQ-NG-I 1 OVCA - F Volos - Greek no - 1 Despoina Kalfakakou
./. - c.1170T>C - p.? Parent #2 g.145741236A>G - RECQL4_000050 - - - - DNA SEQ-NG-I 1 BrCa - F Agrinio Villia, Attica Region Greek no - 1 Despoina Kalfakakou
./. - c.1170T>C - p.? Parent #2 g.145741236A>G - RECQL4_000050 - - - - DNA SEQ-NG-I 1 BladCa, BrCa, HNSCC - M Epanomi, Thessaloniki - Greek no - 1 Despoina Kalfakakou
./. - c.1170T>C - p.? Parent #2 g.145741236A>G - RECQL4_000050 - - - - DNA SEQ-NG-I 1 ColPol, CRC - F Asia Minor - Greek no - 1 Despoina Kalfakakou
./. - c.1170T>C - p.? Parent #2 g.145741236A>G - RECQL4_000050 - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor - Greek no - 2 Despoina Kalfakakou
./. - c.1170T>C - p.? Parent #2 g.145741236A>G - RECQL4_000050 - - - - DNA SEQ-NG-I 1 OVCA - F Pyrgos, Kymi, Euboea - Greek no - 1 Despoina Kalfakakou
./. - c.1176T>G - p.? Parent #2 g.145741230A>C - RECQL4_000197 - - - - DNA SEQ-NG-I 1 OVCA - F Pontus - Greek no - 1 Despoina Kalfakakou
./. - c.1207T>C - p.? Parent #2 g.145741199A>G - RECQL4_000027 - - - - DNA SEQ-NG-I 1 OVCA - F Sparti - Greek no - 1 Despoina Kalfakakou
./. - c.1237G>A - p.? Parent #2 g.145741169C>T - RECQL4_000026 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.1237G>A - p.? Parent #2 g.145741169C>T - RECQL4_000026 - - - - DNA SEQ-NG-I 1 BrCa - F Zagorochoria Ioannina Greek no - 1 Despoina Kalfakakou
./. - c.1237G>A - p.? Parent #2 g.145741169C>T - RECQL4_000026 - - - - DNA SEQ-NG-I 1 BrCa - F Salamina - Greek no - 2 Despoina Kalfakakou
./. - c.1237G>A - p.? Parent #2 g.145741169C>T - RECQL4_000026 - - - - DNA SEQ-NG-I 1 Pheo - F Albania - Greek no - 1 Despoina Kalfakakou
./. - c.1237G>A - p.? Parent #2 g.145741169C>T - RECQL4_000026 - - - - DNA SEQ-NG-I 1 OVCA - F ─░zmir Volos Greek no - 1 Despoina Kalfakakou
./. - c.1237G>A - p.? Parent #2 g.145741169C>T - RECQL4_000026 - - - - DNA SEQ-NG-I 1 OVCA - F Russia & Asia Minor Drama Greek no - 1 Despoina Kalfakakou
./. - c.1237G>A - p.? Parent #2 g.145741169C>T - RECQL4_000026 - - - - DNA SEQ-NG-I 1 OVCA - F Pontus - Greek no - 1 Despoina Kalfakakou
./. - c.1238C>G - p.? Parent #2 g.145741168G>C - RECQL4_000025 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.1238C>G - p.? Parent #2 g.145741168G>C - RECQL4_000025 - - - - DNA SEQ-NG-I 1 BrCa - F Zagorochoria Ioannina Greek no - 1 Despoina Kalfakakou
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