Full data view for gene BRCA1

Information The variants shown are described using the 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.441+36_441+38del r.(=) p.(=) Parent #2 g.41256101_41256103del - BRCA1_000065 - - Germline - - - - DNA SEQ-NG-I 1 CRC, ENC, SkCa - F Asia Minor - Greek no - 1 Despoina Kalfakakou
-/- - c.441+36_441+38del r.(=) p.(=) Parent #2 g.41256101_41256103del - BRCA1_000065 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Heraklion - Greek no - 1 Despoina Kalfakakou
-/- - c.441+36_441+38del r.(=) p.(=) Parent #2 g.41256101_41256103del - BRCA1_000065 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Piraeus Athens Greek no - 1 Despoina Kalfakakou
-/- - c.441+36_441+38del r.(=) p.(=) Parent #2 g.41256101_41256103del - BRCA1_000065 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Chania - Greek no - 1 Despoina Kalfakakou
-/- - c.441+36_441+38del r.(=) p.(=) Parent #2 g.41256101_41256103del - BRCA1_000065 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Bulgaria Romania Romanian no - 1 Despoina Kalfakakou
-/- - c.441+36_441+38del r.(=) p.(=) Parent #2 g.41256101_41256103del - BRCA1_000065 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor Kavala Greek no - 1 Despoina Kalfakakou
-/- - c.441+36_441+38del r.(=) p.(=) Parent #2 g.41256101_41256103del - BRCA1_000065 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Klima, Dorida Gavrolimni, Nafpaktia Greek no - 1 Despoina Kalfakakou
-/- - c.441+36_441+38del r.(=) p.(=) Parent #2 g.41256101_41256103del - BRCA1_000065 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Grammos, Kastoria Panorama, Grevena Greek no - 1 Despoina Kalfakakou
-/- - c.441+36_441+38del r.(=) p.(=) Parent #2 g.41256101_41256103del - BRCA1_000065 - - Germline - - - - DNA SEQ-NG-I 1 - - M Kilkis Thessaloniki Greek no - 1 Despoina Kalfakakou
-/- - c.441+36_441+38del r.(=) p.(=) Parent #2 g.41256101_41256103del - BRCA1_000065 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Aspropyrghos Dervenochoria Greek no - 1 Despoina Kalfakakou
-/- - c.441+36_441+38del r.(=) p.(=) Parent #2 g.41256101_41256103del - BRCA1_000065 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Amalias, Elis - Greek no - 1 Despoina Kalfakakou
-/- - c.441+36_441+38del r.(=) p.(=) Parent #2 g.41256101_41256103del - BRCA1_000065 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - - - - 1 Despoina Kalfakakou
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