Full data view for gene BRCA1

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

15 entries on 1 page. Showing entries 1 - 15.
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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.591C>T r.(=) p.(=) Parent #2 g.41249263G>A - BRCA1_000012 rs1799965 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Lefkada Zakynthos Greek no - 1 Despoina Kalfakakou
-/- - c.591C>T r.(=) p.(=) Parent #2 g.41249263G>A - BRCA1_000012 rs1799965 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Santorini - Greek no - 1 Despoina Kalfakakou
-/- - c.591C>T r.(=) p.(=) Parent #2 g.41249263G>A - BRCA1_000012 rs1799965 - Germline - - - - DNA SEQ-NG-I 1 Healthy/Control - F Aigio - Greek no - 1 Despoina Kalfakakou
-/- - c.591C>T r.(=) p.(=) Parent #2 g.41249263G>A - BRCA1_000012 rs1799965 - Germline - - - - DNA SEQ-NG-I 1 Healthy/Control - F Dafnes,Aegion Paraskevi, Aegion Greek no - 1 Despoina Kalfakakou
-/- - c.591C>T r.(=) p.(=) Parent #2 g.41249263G>A - BRCA1_000012 rs1799965 - Germline - - - - DNA SEQ-NG-I 1 BrCa, Polyposis - F Agios Petros, Kynouria Cairo, Egypt Greek no - 1 Despoina Kalfakakou
-/- - c.591C>T r.(=) p.(=) Parent #2 g.41249263G>A - BRCA1_000012 rs1799965 - Germline - - - - DNA SEQ-NG-I 1 GaPol - F Grevena - Greek no - 1 Despoina Kalfakakou
-/- - c.591C>T r.(=) p.(=) Parent #2 g.41249263G>A - BRCA1_000012 rs1799965 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Chania - Greek no - 1 Despoina Kalfakakou
-/- - c.591C>T r.(=) p.(=) Parent #2 g.41249263G>A - BRCA1_000012 rs1799965 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Albania - Greek no - 1 Despoina Kalfakakou
-/- - c.591C>T r.(=) p.(=) Parent #2 g.41249263G>A - BRCA1_000012 rs1799965 - Germline - - - - DNA SEQ-NG-I 1 BrCa, ColPol - F Potidaneia, Phocis Nafpaktos Greek no - 1 Despoina Kalfakakou
-/- - c.591C>T r.(=) p.(=) Parent #2 g.41249263G>A - BRCA1_000012 rs1799965 - Germline - - - - DNA SEQ-NG-I 1 PrCa - M - - Greek no - 1 Despoina Kalfakakou
-/- - c.591C>T r.(=) p.(=) Parent #2 g.41249263G>A - BRCA1_000012 rs1799965 - Germline - - - - DNA SEQ-NG-I 1 PrCa, RCC - M Ilia Constantinople Greek no - 1 Despoina Kalfakakou
-/- - c.591C>T r.(=) p.(=) Parent #2 g.41249263G>A - BRCA1_000012 rs1799965 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Amarynthos, Euboea - Greek no - 1 Despoina Kalfakakou
-/- - c.591C>T r.(=) p.(=) Parent #2 g.41249263G>A - BRCA1_000012 rs1799965 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Gryllos, Elis - Greek no - 1 Despoina Kalfakakou
-/- - c.591C>T r.(=) p.(=) Parent #2 g.41249263G>A - BRCA1_000012 rs1799965 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Kalamata - Greek no - 1 Despoina Kalfakakou
./. - c.591C>T r.(=) p.(=) Parent #2 g.41249263G>A - BRCA1_000012 rs1799965 - - - - - - DNA SEQ-NG-I 1 BrCa - F Mikra Asia Serres - - - 1 Stevi Xera
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