Full data view for gene BRCA2

Information The variants shown are described using the NM_000059.3 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     
+/. - c.2830A>T - r.(?) p.(Lys944*) - Pathogenic Unknown g.32337185A>T - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA2_000102 rs80358533 1/1726 - DNA MLPA, SEQ-NG-I BRCA2 Wei Xiong Wen et al. (2018) - Malaysia Chinese - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.2830A>T - r.(?) p.(Lys944*) - Pathogenic Unknown g.32337185A>T - Timothy R Rebbeck et al.(2018) BRCA2_000102 rs80358533 1/64 families - DNA SEQ Breast cancer Timothy R Rebbeck et al.(2018) F Malaysia - - - - 1 Nur Aisyah Athirah
+/. 11 c.2830A>T - r.(?) p.(Lys944*) - Pathogenic Unknown g.32337185A>T - Ava Kwong et al.(2016) BRCA2_000102 rs80358533 - Mutation type: Nonsense DNA SEQ Breast cancer Ava Kwong et al.(2016) - Malaysia Chinese - - - 1 Nur Aisyah Athirah
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