Full data view for gene BRCA1

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

3 entries on 1 page. Showing entries 1 - 3.
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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     
-/? 11 c.2077G>A - r.(?) p.(Asp693Asn) - ClinVar Unknown g.43093454C>T - E Thirthagiri et al. (2008), dbSNP, ClinVar BRCA1_000039 rs4986850 - - - - - - - - - - - - - -
-/. 11 c.2077G>A - r.(?) p.(Asp693Asn) - ClinVar Unknown g.43093454C>T - Gaik Theng Toh et al. (2008), dbSNP, ClinVar BRCA1_000039 rs4986850 1/37 - DNA PCR BRCA1 Gaik Theng Toh et al. (2008) F Malaysia Chinese - - - 1 Nuur Athirah Binti Mohd Daud
+/. 11 c.2077G>A - r.(?) p.(Asp693Asn) - Benign Unknown g.43093454C>T - Mohamed Saleem et al.(2020) BRCA1_000039 rs4986850 - - DNA PCR Breast cancer Mohamed Saleem et al.(2018) F (Seberang Jaya, Penang) - - - - 1 Nur Aisyah Athirah
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