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.
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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     
+/. - c.1773_1776del c.1773_1776delTTAT r.(?) p.(Ile591Metfs*22) - Pathogenic Unknown g.32333251_32333254del c.1773_1776delTTAT Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000097 rs80359304 1/1726 - DNA MLPA, SEQ-NG-I BRCA2 Wei Xiong Wen et al. (2018) - Malaysia Chinese - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.1773_1776del - r.(?) p.(Ile591Metfs*22) - Pathogenic Unknown g.32333251_32333254del - Timothy R Rebbeck et al.(2018) BRCA2_000097 rs80359304 1/64 families - DNA SEQ Breast cancer Timothy R Rebbeck et al.(2018) F Malaysia - - - - 1 Nur Aisyah Athirah
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