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.
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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     
+/. 18i c.5153-1G>A - r.spl? p.? - ClinVar Unknown g.43063374C>T - Hanis Nazihah Hasmad et al. (2016), dbSNP, ClinVar BRCA1_000075 rs80358137 1/5 - DNA PCRm, SEQ BRCA1 Hanis Nazihah Hasmad et al. (2016) F Malaysia Malay - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.5153-1G>A - r.spl? p.? - Pathogenic Unknown g.43063374C>T - Timothy R Rebbeck et al.(2018) BRCA1_000075 rs80358137 1/72 families - DNA SEQ Breast cancer Timothy R Rebbeck et al.(2018) F Malaysia - - - - 1 Nur Aisyah Athirah
+/. IVS18 c.5153-1G>A - r.spl? p.? - Pathogenic Unknown g.43063374C>T - Ava Kwong et al.(2016) BRCA1_000075 rs80358137 - Mutation type: Intervening sequence DNA SEQ Breast cancer Ava Kwong et al.(2016) - Malaysia Malay - - - 1 Nur Aisyah Athirah
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