Full data view for gene BRIP1

Information The variants shown are described using the NM_032043.2 transcript reference sequence.

8 entries on 1 page. Showing entries 1 - 8.
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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.790C>T r.(?) p.(Arg264Trp) Parent #2 g.59885956G>A - BRIP1_000014 rs28997569 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Kali Vrisi, Drama - Greek no - 1 Despoina Kalfakakou
-?/-? - c.790C>T r.(?) p.(Arg264Trp) Parent #2 g.59885956G>A - BRIP1_000014 rs28997569 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Serres - Greek no - 4 Despoina Kalfakakou
-?/-? - c.790C>T r.(?) p.(Arg264Trp) Parent #2 g.59885956G>A - BRIP1_000014 rs28997569 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Kalavryta Asia Minor Greek no - 1 Despoina Kalfakakou
-?/-? - c.790C>T r.(?) p.(Arg264Trp) Parent #2 g.59885956G>A - BRIP1_000014 rs28997569 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Corfu Karystos Greek no - 1 Despoina Kalfakakou
-?/-? - c.790C>T r.(?) p.(Arg264Trp) Parent #2 g.59885956G>A - BRIP1_000014 rs28997569 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Athens Kalamata Greek no - 1 Despoina Kalfakakou
-?/-? - c.790C>T r.(?) p.(Arg264Trp) Parent #2 g.59885956G>A - BRIP1_000014 rs28997569 - Germline - - - - DNA SEQ-NG-I 1 - - F Levidi, Arcadia Prinos, Thasos Greek no - 1 Despoina Kalfakakou
-?/-? - c.790C>T r.(?) p.(Arg264Trp) Parent #2 g.59885956G>A - BRIP1_000014 rs28997569 - Germline - - - - DNA SEQ-NG-I 1 - - F Ilia Amarynthos, Euboea Greek no - 1 Despoina Kalfakakou
-?/-? - c.790C>T r.(?) p.(Arg264Trp) Parent #2 g.59885956G>A - BRIP1_000014 rs28997569 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Samos - Greek no - 1 Despoina Kalfakakou
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