Full data view for gene BRCA2

Information The variants shown are described using the NM_000059.3 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.4530del r.(?) p.(Glu1511Asnfs*32) Parent #2 g.32913022del - BRCA2_000273 rs886040537 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Argostoli Patra Greek no - 3 Despoina Kalfakakou
+/+ - c.4530del r.(?) p.(Glu1511Asnfs*32) Parent #2 g.32913022del - BRCA2_000273 rs886040537 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Damoulianata, Kefalonia - Greek no - 4 Despoina Kalfakakou
+/+ - c.4530del r.(?) p.(Glu1511Asnfs*32) Parent #2 g.32913022del - BRCA2_000273 rs886040537 - Germline ? - - - DNA SEQ 0 BrCa - F Argostoli - Greek no - 1 Despoina Kalfakakou
+/+ - c.4530del r.(?) p.(Glu1511Asnfs*32) Maternal (confirmed) g.32913022del - BRCA2_000273 rs886040537 - Germline ? - - - DNA SEQ 0 Healthy/Control - F Argolida Kefalonia Greek no - 2 Despoina Kalfakakou
+/+ - c.4530del r.(?) p.(Glu1511Asnfs*32) Parent #2 g.32913022del - BRCA2_000273 rs886040537 - Germline ? - - - DNA SEQ 0 Healthy/Control - F Damoulianata, Kefalonia - Greek no - 3 Despoina Kalfakakou
+/+ - c.4530del r.(?) p.(Glu1511Asnfs*32) Parent #2 g.32913022del - BRCA2_000273 rs886040537 - Germline ? - - - DNA SEQ 0 CMM3, VCCa - M Kefalonia Amaliada Greek no - 1 Despoina Kalfakakou
+/+ - c.4530del r.(?) p.(Glu1511Asnfs*32) Parent #2 g.32913022del - BRCA2_000273 rs886040537 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
+/+ - c.4530del r.(?) p.(Glu1511Asnfs*32) Parent #2 g.32913022del - BRCA2_000273 rs886040537 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Kefalonia Constantinople Greek no - 2 Despoina Kalfakakou
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