Full data view for gene BRCA1

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

5 entries on 1 page. Showing entries 1 - 5.
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     
+/. - c.4148C>G - r.(?) p.(Ser1383*) - ClinVar Unknown g.43090981G>C - Peter Choon Eng Kang et al. (2014), dbSNP, ClinVar BRCA1_000054 rs80357071 2/14 - DNA ? BRCA1 Peter Choon Eng Kang et al. (2014) F Malaysia Chinese - - - 1 Nuur Athirah Binti Mohd Daud
+/. 12 c.4148C>G - r.(?) p.(Ser1383*) - ClinVar Unknown g.43090981G>C - Hanis Nazihah Hasmad et al. (2016), dbSNP, ClinVar BRCA1_000054 rs80357071 1/7 - DNA PCRm, SEQ BRCA1 Hanis Nazihah Hasmad et al. (2016) F Malaysia Chinese - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.4148C>G - r.(?) p.(Ser1383*) - ClinVar Unknown g.43090981G>C - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000054 rs80357071 2/1726 - DNA MLPA, SEQ-NG-I BRCA1 Wei Xiong Wen et al. (2018) - Malaysia Chinese - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.4148C>G - r.(?) p.(Ser1383*) - Pathogenic Unknown g.43090981G>C - Timothy R Rebbeck et al.(2018) BRCA1_000054 rs80357071 3/72 families - DNA SEQ Breast cancer Timothy R Rebbeck et al.(2018) F Malaysia - - - - 1 Nur Aisyah Athirah
+/. 12 c.4148C>G - r.(?) p.(Ser1383*) - Pathogenic Unknown g.43090981G>C - Ava Kwong et al.(2016) BRCA1_000054 rs80357071 - Mutation type: Nonsense DNA SEQ Breast cancer Ava Kwong et al.(2016) - Malaysia Chinese - - - 1 Nur Aisyah Athirah
Legend   How to query