Full data view for gene BLM

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

9 entries on 1 page. Showing entries 1 - 9.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

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dbSNP ID     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Template     

Technique     

Type     

Disease     

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Geographic origin     

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?/? - c.11T>C r.(?) p.(Val4Ala) Parent #2 g.91290633T>C - BLM_000033 rs144706057 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Preveza - Greek no - 1 Despoina Kalfakakou
?/? - c.11T>C r.(?) p.(Val4Ala) Parent #2 g.91290633T>C - BLM_000033 rs144706057 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Albania - Greek no - 1 Despoina Kalfakakou
?/? - c.11T>C r.(?) p.(Val4Ala) Parent #2 g.91290633T>C - BLM_000033 rs144706057 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Frousouna, Argolis Artemisio, Arcadia Greek no - 1 Despoina Kalfakakou
?/? - c.11T>C r.(?) p.(Val4Ala) Parent #2 g.91290633T>C - BLM_000033 rs144706057 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Avlonari, Evia - Greek no - 1 Despoina Kalfakakou
?/? - c.11T>C r.(?) p.(Val4Ala) Parent #2 g.91290633T>C - BLM_000033 rs144706057 - Germline - - - - DNA SEQ-NG-I 1 PGL2, Pheo - F Milies, Euboea Krioneritis, Euboea Greek no - 1 Despoina Kalfakakou
?/? - c.11T>C r.(?) p.(Val4Ala) Parent #2 g.91290633T>C - BLM_000033 rs144706057 - Germline - - - - DNA SEQ-NG-I 1 OBT, PNCA2 - M Edessa Pentapoli, Serres Greek no - 1 Despoina Kalfakakou
?/? - c.11T>C r.(?) p.(Val4Ala) Parent #2 g.91290633T>C - BLM_000033 rs144706057 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Psari, Messenia Mavronoros, Grevena Greek no - 1 Despoina Kalfakakou
?/? - c.11T>C r.(?) p.(Val4Ala) Parent #2 g.91290633T>C - BLM_000033 rs144706057 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Didyma, Argolis Levidi, Argolis Greek no - 1 Despoina Kalfakakou
?/? - c.11T>C r.(?) p.(Val4Ala) Parent #2 g.91290633T>C - BLM_000033 rs144706057 - Germline - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Rafti, Arcadia - Greek no - 1 Despoina Kalfakakou
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