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     
+/? 2 c.61delA - r.(?) p.(Ile21Serfs*2) - ClinVar Unknown g.43124036delT - E Thirthagiri et al. (2008)dbSNP BRCA1_000006 rs273902778 - - DNA ? BRCA1 E Thirthagiri; et al. (2008) - - - - - - 1 MyHVP
+/. 2 c.61delA - r.(?) p.(Ile21Serfs*2) - Pathogenic Unknown g.43124036delT - Ava Kwong et al.(2016) BRCA1_000006 rs273902778 - Mutation type: Deletion - frameshift DNA SEQ Breast cancer Ava Kwong et al.(2016) - Malaysia Indian - - - 1 Nur Aisyah Athirah
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