Full data view for gene BLM

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

12 entries on 1 page. Showing entries 1 - 12.
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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.1928G>A r.(?) p.(Arg643His) Parent #2 g.91306241G>A - BLM_000002 rs12720097 - - - - - - DNA SEQ-NG-I 1 BrCa, ENC - F Asia Minor Sparti Greek no - 1 Despoina Kalfakakou
./. - c.1928G>A r.(?) p.(Arg643His) Parent #2 g.91306241G>A - BLM_000002 rs12720097 - - - - - - DNA SEQ-NG-I 1 BrCa - F Arcadia Messinia Greek no - 1 Despoina Kalfakakou
./. - c.1928G>A r.(?) p.(Arg643His) Parent #2 g.91306241G>A - BLM_000002 rs12720097 - - - - - - DNA SEQ-NG-I 1 BrCa - F Karystos, Evia - Greek no - 1 Despoina Kalfakakou
./. - c.1928G>A r.(?) p.(Arg643His) Parent #2 g.91306241G>A - BLM_000002 rs12720097 - - - - - - DNA SEQ-NG-I 1 BrCa - F Argos Orestiko Kalo Nero, Larisa Greek no - 1 Despoina Kalfakakou
./. - c.1928G>A r.(?) p.(Arg643His) Parent #2 g.91306241G>A - BLM_000002 rs12720097 - - - - - - DNA SEQ-NG-I 1 OVCA - F Kapnofyto, Serres Sidirokastro, Serres Greek no - 8 Despoina Kalfakakou
./. - c.1928G>A r.(?) p.(Arg643His) Parent #2 g.91306241G>A - BLM_000002 rs12720097 - - - - - - DNA SEQ-NG-I 1 - - F Kastoria Egypt Greek no - 1 Despoina Kalfakakou
./. - c.1928G>A r.(?) p.(Arg643His) Parent #2 g.91306241G>A - BLM_000002 rs12720097 - - - - - - DNA SEQ-NG-I 1 PrCa - M Thessaloniki - Greek no - 1 Despoina Kalfakakou
./. - c.1928G>A r.(?) p.(Arg643His) Parent #2 g.91306241G>A - BLM_000002 rs12720097 - - - - - - DNA SEQ-NG-I 1 BrCa - F - - Greek no - 1 Despoina Kalfakakou
./. - c.1928G>A r.(?) p.(Arg643His) Parent #2 g.91306241G>A - BLM_000002 rs12720097 - - - - - - DNA SEQ-NG-I 1 BrCa - F Pontus - Greek no - 1 Despoina Kalfakakou
./. - c.1928G>A r.(?) p.(Arg643His) Parent #2 g.91306241G>A - BLM_000002 rs12720097 - - - - - - DNA SEQ-NG-I 1 BrCa - F Athens - Greek no - 1 Despoina Kalfakakou
./. - c.1928G>A r.(?) p.(Arg643His) Parent #2 g.91306241G>A - BLM_000002 rs12720097 - - - - - - DNA SEQ-NG-I 1 BrCa - F Aigani, Laris Sycurium, Larisa Greek no - 1 Despoina Kalfakakou
./. - c.1928G>A r.(?) p.(Arg643His) Parent #2 g.91306241G>A - BLM_000002 rs12720097 - - - - - - DNA SEQ-NG-I 1 BrCa - F Mani Serres Greek no - 1 Despoina Kalfakakou
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