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.
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     
+/. - c.3228_3229del - r.(?) p.(Gly1077Alafs*8) - ClinVar Unknown g.43092302_43092303del - Xiaohong R Yang et al. (2017), dbSNP, ClinVar BRCA1_000058 rs80357635 1/13 - DNA MLPA, SEQ BRCA1 Xiaohong R Yang et al. (2017) F Malaysia - Sarawak - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.3228_3229del - r.(?) p.(Gly1077Alafs*8) - Pathogenic Unknown g.43092302_43092303del - Timothy R Rebbeck et al.(2018) BRCA1_000058 rs80357635 1/72 families - DNA SEQ Breast cancer Timothy R Rebbeck et al.(2018) F Malaysia - - - - 1 Nur Aisyah Athirah
Legend   How to query