Full data view for gene BRCA1

Information The variants shown are described using the NM_007294.3 transcript reference sequence.

8 entries on 1 page. Showing entries 1 - 8.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     

Allele     

DNA change (genomic) (hg38)     

Published as     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Variant remarks     

Template     

Technique     

Disease     

Reference     

Gender     

Geographic origin     

Ethnic origin     

Population     

Remarks     

Microattribution     

Panel size     

Owner     
-/. 16 c.4837A>G - r.(?) p.(Ser1613Gly) - ClinVar Unknown g.43071077T>C - Toh GT et al. (2008)dbSNP BRCA1_000005 rs1799966 - - - - - - - - - - - - - -
+/. - c.4837A>G - r.(?) p.(Ser1613Gly) - ClinVar Unknown g.43071077T>C - P Balraj et al. (2002), dbSNP, ClinVar BRCA1_000005 rs1799966 20/30 - DNA PCR BRCA1 P Balraj et al. (2002) F Malaysia Malay - - - 1 Nuur Athirah Binti Mohd Daud
-/. 16 c.4837A>G - r.(?) p.(Ser1613Gly) - ClinVar Unknown g.43071077T>C - Gaik Theng Toh et al. (2008), dbSNP, ClinVar BRCA1_000005 rs1799966 10/37 - DNA PCR BRCA1 Gaik Theng Toh et al. (2008) F Malaysia Malay - - - 1 Nuur Athirah Binti Mohd Daud
-/. 16 c.4837A>G - r.(?) p.(Ser1613Gly) - ClinVar Unknown g.43071077T>C - Gaik Theng Toh et al. (2008), dbSNP, ClinVar BRCA1_000005 rs1799966 15/37 - DNA PCR BRCA1 Gaik Theng Toh et al. (2008) F Malaysia Chinese - - - 1 Nuur Athirah Binti Mohd Daud
-/. 16 c.4837A>G - r.(?) p.(Ser1613Gly) - ClinVar Unknown g.43071077T>C - Gaik Theng Toh et al. (2008), dbSNP, ClinVar BRCA1_000005 rs1799966 3/37 - DNA PCR BRCA1 Gaik Theng Toh et al. (2008) F Malaysia Indian - - - 1 Nuur Athirah Binti Mohd Daud
-/. - c.4837A>G 4956A>G r.(?) p.(Ser1613Gly) - ClinVar Unknown g.43071077T>C 4956A>G P Balraj et al. (2002), dbSNP, ClinVar BRCA1_000005 rs1799966 1/8 - DNA PCR BRCA1 P Balraj et al. (2002) F Malaysia Chinese - - - 1 Nuur Athirah Binti Mohd Daud
-/. - c.4837A>G 4956A>G r.(?) p.(Ser1613Gly) - ClinVar Unknown g.43071077T>C 4956A>G P Balraj et al. (2002), dbSNP, ClinVar BRCA1_000005 rs1799966 1/7 - DNA PCR BRCA1 P Balraj et al. (2002) F Malaysia Indian - - - 1 Nuur Athirah Binti Mohd Daud
+/. 16 c.4837A>G - r.(?) p.(Ser1613Gly) - Benign Unknown g.43071077T>C - Mohamed Saleem et al.(2018) BRCA1_000005 rs1799966 - - DNA PCR Breast cancer Mohamed Saleem et al.(2018) F (Seberang Jaya, Penang) - - - - 1 Nur Aisyah Athirah
Legend   How to query