Full data view for gene SBDS

Information The variants shown are described using the NM_016038.2 transcript reference sequence.

35 entries on 1 page. Showing entries 1 - 35.
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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     

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Consanguinity     

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Panel size     

Owner     
?/? - c.625-22T>A r.(=) p.(=) Parent #2 g.66453508A>T - SBDS_000010 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Mytilene - Greek no - 1 Despoina Kalfakakou
?/? - c.625-22T>A r.(=) p.(=) Parent #2 g.66453508A>T - SBDS_000010 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Argos - Greek no - 1 Despoina Kalfakakou
?/? - c.625-22T>A r.(=) p.(=) Parent #2 g.66453508A>T - SBDS_000010 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Cyprus Izmir Greek no - 1 Despoina Kalfakakou
?/? - c.625-22T>A r.(=) p.(=) Parent #2 g.66453508A>T - SBDS_000010 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - M Narte Vlore, Albania - Albanian no - 1 Despoina Kalfakakou
?/? - c.625-22T>A r.(=) p.(=) Parent #2 g.66453508A>T - SBDS_000010 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Andravida, Elis Leros Greek no - 1 Despoina Kalfakakou
?/? - c.625-22T>A r.(=) p.(=) Parent #2 g.66453508A>T - SBDS_000010 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Neapoli, Laconia - Greek no - 1 Despoina Kalfakakou
?/? - c.625-22T>A r.(=) p.(=) Parent #2 g.66453508A>T - SBDS_000010 - - Germline - - - - DNA SEQ-NG-I 1 BrCa, CRC, TRC - F Elis Constantinople Greek no - 1 Despoina Kalfakakou
?/? - c.625-22T>A r.(=) p.(=) Parent #2 g.66453508A>T - SBDS_000010 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Argithea, Agrafa - Greek no - 1 Despoina Kalfakakou
?/? - c.625-22T>A r.(=) p.(=) Parent #2 g.66453508A>T - SBDS_000010 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Platanos, Kissamos, Chania - Greek no - 4 Despoina Kalfakakou
?/? - c.625-22T>A r.(=) p.(=) Parent #2 g.66453508A>T - SBDS_000010 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Andros Athens Greek no - 1 Despoina Kalfakakou
?/? - c.625-22T>A r.(=) p.(=) Parent #2 g.66453508A>T - SBDS_000010 - - Germline - - - - DNA SEQ-NG-I 1 CRC - M Methoni, Messenia Desillas, Messenia Greek no - 1 Despoina Kalfakakou
?/? - c.625-22T>A r.(=) p.(=) Parent #2 g.66453508A>T - SBDS_000010 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Kastoria Athens Greek no - 3 Despoina Kalfakakou
?/? - c.625-22T>A r.(=) p.(=) Parent #2 g.66453508A>T - SBDS_000010 - - Germline - - - - DNA SEQ-NG-I 1 BrCa, NF1 - F Patra - Greek no - 1 Despoina Kalfakakou
?/? - c.625-22T>A r.(=) p.(=) Parent #2 g.66453508A>T - SBDS_000010 - - Germline - - - - DNA SEQ-NG-I 1 CRC, ENC, SkCa - F Asia Minor - Greek no - 1 Despoina Kalfakakou
?/? - c.625-22T>A r.(=) p.(=) Parent #2 g.66453508A>T - SBDS_000010 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Agrinio - Greek no - 1 Despoina Kalfakakou
?/? - c.625-22T>A r.(=) p.(=) Parent #2 g.66453508A>T - SBDS_000010 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Epirus Evia Greek no - 1 Despoina Kalfakakou
?/? - c.625-22T>A r.(=) p.(=) Parent #2 g.66453508A>T - SBDS_000010 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - M Skliva, Elis - Greek no - 1 Despoina Kalfakakou
?/? - c.625-22T>A r.(=) p.(=) Parent #2 g.66453508A>T - SBDS_000010 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Heraklion - Greek no - 1 Despoina Kalfakakou
?/? - c.625-22T>A r.(=) p.(=) Parent #2 g.66453508A>T - SBDS_000010 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
?/? - c.625-22T>A r.(=) p.(=) Parent #2 g.66453508A>T - SBDS_000010 - - Germline - - - - DNA SEQ-NG-I 1 - - F - - Greek no - 1 Despoina Kalfakakou
?/? - c.625-22T>A r.(=) p.(=) Parent #2 g.66453508A>T - SBDS_000010 - - Germline - - - - DNA SEQ-NG-I 1 AML, BrCa, CRC, PNCA2, TRC - F Asia Minor Rethimno, Crete Greek no - 1 Despoina Kalfakakou
?/? - c.625-22T>A r.(=) p.(=) Parent #2 g.66453508A>T - SBDS_000010 - - Germline - - - - DNA SEQ-NG-I 1 PNCA2 - M Athens Florina Greek no - 1 Despoina Kalfakakou
?/? - c.625-22T>A r.(=) p.(=) Parent #2 g.66453508A>T - SBDS_000010 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Corfu - Greek no - 1 Despoina Kalfakakou
?/? - c.625-22T>A r.(=) p.(=) Parent #2 g.66453508A>T - SBDS_000010 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Grevena Mytilene Greek no - 1 Despoina Kalfakakou
?/? - c.625-22T>A r.(=) p.(=) Parent #2 g.66453508A>T - SBDS_000010 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Evia - Greek no - 1 Despoina Kalfakakou
?/? - c.625-22T>A r.(=) p.(=) Parent #2 g.66453508A>T - SBDS_000010 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Halkidiki - Greek no - 1 Despoina Kalfakakou
?/? - c.625-22T>A r.(=) p.(=) Parent #2 g.66453508A>T - SBDS_000010 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Piraeus Florina Greek no - 1 Despoina Kalfakakou
?/? - c.625-22T>A r.(=) p.(=) Parent #2 g.66453508A>T - SBDS_000010 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Sifnos - Greek no - 1 Despoina Kalfakakou
?/? - c.625-22T>A r.(=) p.(=) Parent #2 g.66453508A>T - SBDS_000010 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Thessaloniki Xanthi Greek no - 1 Despoina Kalfakakou
?/? - c.625-22T>A r.(=) p.(=) Parent #2 g.66453508A>T - SBDS_000010 - - Germline - - - - DNA SEQ-NG-I 1 ENC, OVCA - F - - Greek no - 1 Despoina Kalfakakou
?/? - c.625-22T>A r.(=) p.(=) Parent #2 g.66453508A>T - SBDS_000010 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Amalias, Elis - Greek no - 1 Despoina Kalfakakou
?/? - c.625-22T>A r.(=) p.(=) Parent #2 g.66453508A>T - SBDS_000010 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F England - Greek no - 3 Despoina Kalfakakou
?/? - c.625-22T>A r.(=) p.(=) Parent #2 g.66453508A>T - SBDS_000010 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Kavala Asia Minor Thera Greek no - 1 Despoina Kalfakakou
?/? - c.625-22T>A r.(=) p.(=) Parent #2 g.66453508A>T - SBDS_000010 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Tripoli - Greek no - 3 Despoina Kalfakakou
?/? - c.625-22T>A r.(=) p.(=) Parent #2 g.66453508A>T - SBDS_000010 - - Germline - - - - DNA SEQ-NG-I 1 ENC, EnPol - F Kalamata Athens - - - 1 Despoina Kalfakakou
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