Full data view for gene SBDS

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

11 entries on 1 page. Showing entries 1 - 11.
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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     

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Panel size     

Owner     
-?/-? - c.127G>T r.(?) p.(Val43Leu) Parent #2 g.66460278C>A - SBDS_000007 rs147652512 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Ios - Greek no - 1 Despoina Kalfakakou
-?/-? - c.127G>T r.(?) p.(Val43Leu) Parent #2 g.66460278C>A - SBDS_000007 rs147652512 - Germline - - - - DNA SEQ-NG-I 1 Healthy/Control - F Elis Zante Greek no - 1 Despoina Kalfakakou
-?/-? - c.127G>T r.(?) p.(Val43Leu) Parent #2 g.66460278C>A - SBDS_000007 rs147652512 - Germline - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Thessaloniki - Greek no - 2 Despoina Kalfakakou
-?/-? - c.127G>T r.(?) p.(Val43Leu) Parent #2 g.66460278C>A - SBDS_000007 rs147652512 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Komotini - Greek no - 1 Despoina Kalfakakou
-?/-? - c.127G>T r.(?) p.(Val43Leu) Parent #2 g.66460278C>A - SBDS_000007 rs147652512 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Ancient Epidavros - Greek no - 3 Despoina Kalfakakou
-?/-? - c.127G>T r.(?) p.(Val43Leu) Parent #2 g.66460278C>A - SBDS_000007 rs147652512 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Agiovlastika, Achaia - Greek no - 1 Despoina Kalfakakou
-?/-? - c.127G>T r.(?) p.(Val43Leu) Parent #2 g.66460278C>A - SBDS_000007 rs147652512 - Germline - - - - DNA SEQ-NG-I 1 BrCa, TRC - F Kalavryta Patra Greek no - 2 Despoina Kalfakakou
-?/-? - c.127G>T r.(?) p.(Val43Leu) Parent #2 g.66460278C>A - SBDS_000007 rs147652512 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Piraeus Florina Greek no - 1 Despoina Kalfakakou
-?/-? - c.127G>T r.(?) p.(Val43Leu) Parent #2 g.66460278C>A - SBDS_000007 rs147652512 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Karya, Elassona Kallipefki, Larisa Greek no - 1 Despoina Kalfakakou
./. - c.127G>T r.(?) p.(Val43Leu) Parent #2 g.66460278C>A - SBDS_000007 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Pontus Kefalonia - - - 1 Stevi Xera
./. - c.127G>T r.(?) p.(Val43Leu) Parent #2 g.66460278C>A - SBDS_000007 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Ioannina Arta - - - 1 Stevi Xera
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