Full data view for gene SBDS

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

19 entries on 1 page. Showing entries 1 - 19.
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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.*10A>G r.(=) p.(=) Parent #2 g.66453348T>C - SBDS_000005 rs11557421 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Krapsi, Ioannina - Greek no - 2 Despoina Kalfakakou
?/? - c.*10A>G r.(=) p.(=) Parent #2 g.66453348T>C - SBDS_000005 rs11557421 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Distomo, Boeotia - Greek no - 1 Despoina Kalfakakou
?/? - c.*10A>G r.(=) p.(=) Parent #2 g.66453348T>C - SBDS_000005 rs11557421 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Argos - Greek no - 1 Despoina Kalfakakou
?/? - c.*10A>G r.(=) p.(=) Parent #2 g.66453348T>C - SBDS_000005 rs11557421 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Ptolemaida Nemea Greek no - 1 Despoina Kalfakakou
?/? - c.*10A>G r.(=) p.(=) Parent #2 g.66453348T>C - SBDS_000005 rs11557421 - Germline - - - - DNA SEQ-NG-I 1 BrCa, CRC, TRC - F Elis Constantinople Greek no - 1 Despoina Kalfakakou
?/? - c.*10A>G r.(=) p.(=) Parent #2 g.66453348T>C - SBDS_000005 rs11557421 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Argithea, Agrafa - Greek no - 1 Despoina Kalfakakou
?/? - c.*10A>G r.(=) p.(=) Parent #2 g.66453348T>C - SBDS_000005 rs11557421 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Andros Athens Greek no - 1 Despoina Kalfakakou
?/? - c.*10A>G r.(=) p.(=) Parent #2 g.66453348T>C - SBDS_000005 rs11557421 - Germline - - - - DNA SEQ-NG-I 1 CRC, ENC, SkCa - F Asia Minor - Greek no - 1 Despoina Kalfakakou
?/? - c.*10A>G r.(=) p.(=) Parent #2 g.66453348T>C - SBDS_000005 rs11557421 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Aptera, Chania - Greek no - 5 Despoina Kalfakakou
?/? - c.*10A>G r.(=) p.(=) Parent #2 g.66453348T>C - SBDS_000005 rs11557421 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Agrinio - Greek no - 1 Despoina Kalfakakou
?/? - c.*10A>G r.(=) p.(=) Parent #2 g.66453348T>C - SBDS_000005 rs11557421 - Germline - - - - DNA SEQ-NG-I 1 BrCa - M Skliva, Elis - Greek no - 1 Despoina Kalfakakou
?/? - c.*10A>G r.(=) p.(=) Parent #2 g.66453348T>C - SBDS_000005 rs11557421 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Heraklion - Greek no - 1 Despoina Kalfakakou
?/? - c.*10A>G r.(=) p.(=) Parent #2 g.66453348T>C - SBDS_000005 rs11557421 - Germline - - - - DNA SEQ-NG-I 1 AML, BrCa, CRC, PNCA2, TRC - F Asia Minor Rethimno, Crete Greek no - 1 Despoina Kalfakakou
?/? - c.*10A>G r.(=) p.(=) Parent #2 g.66453348T>C - SBDS_000005 rs11557421 - Germline - - - - DNA SEQ-NG-I 1 PNCA2 - M Athens Florina Greek no - 1 Despoina Kalfakakou
?/? - c.*10A>G r.(=) p.(=) Parent #2 g.66453348T>C - SBDS_000005 rs11557421 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Piraeus Florina Greek no - 1 Despoina Kalfakakou
?/? - c.*10A>G r.(=) p.(=) Parent #2 g.66453348T>C - SBDS_000005 rs11557421 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Sifnos - Greek no - 1 Despoina Kalfakakou
?/? - c.*10A>G r.(=) p.(=) Parent #2 g.66453348T>C - SBDS_000005 rs11557421 - Germline - - - - DNA SEQ-NG-I 1 BrCa, RCC - F Mytilene Sparta Greek no - 1 Despoina Kalfakakou
?/? - c.*10A>G r.(=) p.(=) Parent #2 g.66453348T>C - SBDS_000005 rs11557421 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Messini - Greek no - 5 Despoina Kalfakakou
?/? - c.*10A>G r.(=) p.(=) Parent #2 g.66453348T>C - SBDS_000005 rs11557421 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Kavala Asia Minor Thera Greek no - 1 Despoina Kalfakakou
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