Full data view for gene BRCA1

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

2 entries on 1 page. Showing entries 1 - 2.
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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     
+/. - c.134+2delT - r.spl? p.? - - Unknown g.43115724delA - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000087 rs273897657 1/1726 - DNA MLPA, SEQ-NG-I BRCA1 Wei Xiong Wen et al. (2018) - Malaysia Chinese - - - 1 Nuur Athirah Binti Mohd Daud
+/. IVS3 c.134+2delT - r.spl? p.? - Pathogenic Unknown g.43115724delA - Ava Kwong et al.(2016) BRCA1_000087 rs273897657 - Mutation type: Intervening sequence DNA SEQ Breast cancer Ava Kwong et al.(2016) - Malaysia Chinese - - - 1 Nur Aisyah Athirah
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