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     
+/. 11 c.686_687delCT - r.(?) p.(Ser229*) - ClinVar Unknown g.43094844_43094845delAG - P S Ng et al. (2016)dbSNP BRCA1_000043 rs746766787 1/2 - DNA SEQ BRCA1 P S Ng et al. (2016) F Malaysia Malay - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.686_687delCT - r.(?) p.(Ser229*) - - Unknown g.43094844_43094845delAG - Wei Xiong Wen et al. (2018) BRCA1_000043 rs746766787 1/490 - DNA MLPA, SEQ-NG-I BRCA1 Wei Xiong Wen et al. (2018) - Malaysia Malay - - - 1 Nuur Athirah Binti Mohd Daud
Legend   How to query