Full data view for gene BRCA2

Information The variants shown are described using the NM_000059.3 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.2471_2476del 2471_2476delTAAATG r.(?) p.(Leu824*) - Pathogenic Unknown g.32336826_32336831del 2471_2476delTAAATG Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000099 rs276174823 1/490 - DNA MLPA, SEQ-NG-I BRCA2 Wei Xiong Wen et al. (2018) - Malaysia Malay - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.2471_2476del - r.(?) p.(Leu824*) - Pathogenic Unknown g.32336826_32336831del - Timothy R Rebbeck et al.(2018) BRCA2_000099 rs276174823 1/64 families - DNA SEQ Breast cancer Timothy R Rebbeck et al.(2018) F Malaysia - - - - 1 Nur Aisyah Athirah
Legend   How to query