Full data view for gene BLM

Information The variants shown are described using the NM_000057.2 transcript reference sequence.

34 entries on 1 page. Showing entries 1 - 34.
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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.1722A>G r.(=) p.(=) Parent #2 g.91304325A>G - BLM_000001 rs28385011 - - - - - - DNA SEQ-NG-I 1 OVCA - F Trikala Crete Greek no - 1 Despoina Kalfakakou
./. - c.1722A>G r.(=) p.(=) Parent #2 g.91304325A>G - BLM_000001 rs28385011 - - - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.1722A>G r.(=) p.(=) Parent #2 g.91304325A>G - BLM_000001 rs28385011 - - - - - - DNA SEQ-NG-I 1 BrCa - F Drama Giannitsa Greek no - 1 Despoina Kalfakakou
./. - c.1722A>G r.(=) p.(=) Parent #2 g.91304325A>G - BLM_000001 rs28385011 - - - - - - DNA SEQ-NG-I 1 BrCa - F Athens - Greek no - 1 Despoina Kalfakakou
./. - c.1722A>G r.(=) p.(=) Parent #2 g.91304325A>G - BLM_000001 rs28385011 - - - - - - DNA SEQ-NG-I 1 BrCa - F Spetses Laconia Greek no - 1 Despoina Kalfakakou
./. - c.1722A>G r.(=) p.(=) Parent #2 g.91304325A>G - BLM_000001 rs28385011 - - - - - - DNA SEQ-NG-I 1 BrCa - F Lamia Evrytania Greek no - 1 Despoina Kalfakakou
./. - c.1722A>G r.(=) p.(=) Parent #2 g.91304325A>G - BLM_000001 rs28385011 - - - - - - DNA SEQ-NG-I 1 BrCa - F Messolonghi Ioannina Greek no - 1 Despoina Kalfakakou
./. - c.1722A>G r.(=) p.(=) Both (homozygous) g.91304325A>G - BLM_000001 rs28385011 - - - - - - DNA SEQ-NG-I 1 BrCa - F Livadi, Elassona Nea Trapezounta, Pieria Greek no - 1 Despoina Kalfakakou
./. - c.1722A>G r.(=) p.(=) Parent #2 g.91304325A>G - BLM_000001 rs28385011 - - - - - - DNA SEQ-NG-I 1 BrCa - F Pontus Asia Minor Greek no - 3 Despoina Kalfakakou
./. - c.1722A>G r.(=) p.(=) Parent #2 g.91304325A>G - BLM_000001 rs28385011 - - - - - - DNA SEQ-NG-I 1 CRC, TRC - F Nikisiani, Kavala Kleitoria, Kalavryta Greek no - 1 Despoina Kalfakakou
./. - c.1722A>G r.(=) p.(=) Parent #2 g.91304325A>G - BLM_000001 rs28385011 - - - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Symi Kos Greek no - 3 Despoina Kalfakakou
./. - c.1722A>G r.(=) p.(=) Parent #2 g.91304325A>G - BLM_000001 rs28385011 - - - - - - DNA SEQ-NG-I 1 Healthy/Control - F Skiathos Corfu Greek no - 1 Despoina Kalfakakou
./. - c.1722A>G r.(=) p.(=) Parent #2 g.91304325A>G - BLM_000001 rs28385011 - - - - - - DNA SEQ-NG-I 1 BrCa, LuCa - F Plagia, Aetolia-Acarnania - Greek no - 1 Despoina Kalfakakou
./. - c.1722A>G r.(=) p.(=) Parent #2 g.91304325A>G - BLM_000001 rs28385011 - - - - - - DNA SEQ-NG-I 1 BrCa - F Rodia, Pineia - Greek no - 1 Despoina Kalfakakou
./. - c.1722A>G r.(=) p.(=) Parent #2 g.91304325A>G - BLM_000001 rs28385011 - - - - - - DNA SEQ-NG-I 1 OVCA - F Gytheio, Laconia Sparta Greek no - 1 Despoina Kalfakakou
./. - c.1722A>G r.(=) p.(=) Parent #2 g.91304325A>G - BLM_000001 rs28385011 - - - - - - DNA SEQ-NG-I 1 BrCa - F Rizia, Evros - Greek no - 1 Despoina Kalfakakou
./. - c.1722A>G r.(=) p.(=) Parent #2 g.91304325A>G - BLM_000001 rs28385011 - - - - - - DNA SEQ-NG-I 1 BrCa - F Aghios Vasileios, Aetolia-Acarnania Oichalia, Trikala Greek no - 3 Despoina Kalfakakou
./. - c.1722A>G r.(=) p.(=) Parent #2 g.91304325A>G - BLM_000001 rs28385011 - - - - - - DNA SEQ-NG-I 1 BrCa - F Eastern Rumelia - Greek no - 1 Despoina Kalfakakou
./. - c.1722A>G r.(=) p.(=) Parent #2 g.91304325A>G - BLM_000001 rs28385011 - - - - - - DNA SEQ-NG-I 1 OVCA - F Karavas, Cyprus Chios Greek no - 1 Despoina Kalfakakou
./. - c.1722A>G r.(=) p.(=) Parent #2 g.91304325A>G - BLM_000001 rs28385011 - - - - - - DNA SEQ-NG-I 1 BrCa - F Grevena Peloponnese Greek no - 1 Despoina Kalfakakou
./. - c.1722A>G r.(=) p.(=) Parent #2 g.91304325A>G - BLM_000001 rs28385011 - - - - - - DNA SEQ-NG-I 1 BrCa - F Drama Vonitsa Greek no - 1 Despoina Kalfakakou
./. - c.1722A>G r.(=) p.(=) Parent #2 g.91304325A>G - BLM_000001 rs28385011 - - - - - - DNA SEQ-NG-I 1 OVCA - F Agios Petros Kilkis Greek no - 1 Despoina Kalfakakou
./. - c.1722A>G r.(=) p.(=) Parent #2 g.91304325A>G - BLM_000001 rs28385011 - - - - - - DNA SEQ-NG-I 1 MDB - M Athens Chalkida Greek no - 1 Despoina Kalfakakou
./. - c.1722A>G r.(=) p.(=) Parent #2 g.91304325A>G - BLM_000001 rs28385011 - - - - - - DNA SEQ-NG-I 1 Pheo - M Astros, Kynouria Amfilochia Greek no - 1 Despoina Kalfakakou
./. - c.1722A>G r.(=) p.(=) Parent #2 g.91304325A>G - BLM_000001 rs28385011 - - - - - - DNA SEQ-NG-I 1 BrCa - F Volos - Greek no - 1 Despoina Kalfakakou
./. - c.1722A>G r.(=) p.(=) Parent #2 g.91304325A>G - BLM_000001 rs28385011 - - - - - - DNA SEQ-NG-I 1 BrCa - F Aigani, Laris Sycurium, Larisa Greek no - 1 Despoina Kalfakakou
./. - c.1722A>G r.(=) p.(=) Parent #2 g.91304325A>G - BLM_000001 rs28385011 - - - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor Chania Greek no - 1 Despoina Kalfakakou
./. - c.1722A>G r.(=) p.(=) Parent #2 g.91304325A>G - BLM_000001 rs28385011 - - - - - - DNA SEQ-NG-I 1 OVCA - F Kalamata - Greek no - 1 Despoina Kalfakakou
./. - c.1722A>G r.(=) p.(=) Parent #2 g.91304325A>G - BLM_000001 rs28385011 - - - - - - DNA SEQ-NG-I 1 OVCA - F Pontus Thessaloniki Greek no - 1 Despoina Kalfakakou
./. - c.1722A>G r.(=) p.(=) Parent #2 g.91304325A>G - BLM_000001 rs28385011 - - - - - - DNA SEQ-NG-I 1 OVCA - F Albania - Greek no - 2 Despoina Kalfakakou
./. - c.1722A>G r.(=) p.(=) Parent #2 g.91304325A>G - BLM_000001 rs28385011 - - - - - - DNA SEQ-NG-I 1 BrCa - M - - Greek no - 1 Despoina Kalfakakou
./. - c.1722A>G r.(=) p.(=) Parent #2 g.91304325A>G - BLM_000001 rs28385011 - - - - - - DNA SEQ-NG - NDL, RenLes, TSC2 - M - - Greek no - 1 Despoina Kalfakakou
./. - c.1722A>G r.(=) p.(=) Parent #2 g.91304325A>G - BLM_000001 rs28385011 - - - - - - DNA SEQ-NG-I 1 OVCA - F Kalamata ─░zmir Greek no - 1 Despoina Kalfakakou
./. - c.1722A>G r.(=) p.(=) Parent #2 g.91304325A>G - BLM_000001 rs28385011 - - - - - - DNA SEQ-NG-I 1 OVCA - F Pontus Thessaloniki Greek no - 1 Despoina Kalfakakou
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