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     
+/. 21 c.5299del - r.(?) p.(Cys1767Valfs*26) - ClinVar Unknown g.43051096del - Hanis Nazihah Hasmad et al. (2016), dbSNP, ClinVar BRCA1_000083 rs886040286 1/5 - DNA PCRm, SEQ BRCA1 Hanis Nazihah Hasmad et al. (2016) F Malaysia Indian - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.5299del - r.(?) p.(Cys1767Valfs*26) - Pathogenic Unknown g.43051096del - Timothy R Rebbeck et al.(2018) BRCA1_000083 rs886040286 1/72 families - DNA SEQ Breast cancer Timothy R Rebbeck et al.(2018) F Malaysia - - - - 1 Nur Aisyah Athirah
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