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.
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     
+/? 2 c.68_69delAG - r.(?) p.(Glu23Valfs*17) - ClinVar Unknown g.43124028_43124029delCT - E Thirthagiri et al. (2008)dbSNP BRCA1_000007 rs80357914 - - - - - - - - - - - - - -
+/. - c.68_69delAG - r.(?) p.(Glu23Valfs*17) - - Unknown g.43124028_43124029delCT - Wen WX, Allen J, Lai KN, et al.(2018) BRCA1_000007 rs80357914 4/17 - DNA SEQ BRCA1 Wen WX et al.(2018) - Malaysia - - - - 1 Nur Aisyah Athirah
+/. 2 c.68_69delAG - r.(?) p.(Glu23Valfs*17) - Pathogenic Unknown g.43124028_43124029delCT - Ava Kwong et al.(2016) BRCA1_000007 rs80357914 - Mutation type: Deletion - frameshif DNA SEQ Breast cancer Ava Kwong et al.(2016) - Malaysia Indian - - - 1 Nur Aisyah Athirah
Legend   How to query