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.
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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     
+?/. 17 c.5072C>A - r.(?) p.(Thr1691Lys) - ClinVar Unknown g.43067610G>T - P S Ng et al. (2016), dbSNP, ClinVar BRCA1_000070 rs80357034 1/5 - DNA SEQ BRCA1 P S Ng et al. (2016) F Malaysia Chinese - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.5072C>A - r.(?) p.(Thr1691Lys) missense Likely pathogenic Unknown g.43067610G>T - Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000070 rs80357034 2/1726 - DNA MLPA, SEQ-NG-I BRCA1 Wei Xiong Wen et al. (2018) - Malaysia Chinese - - - 1 Nuur Athirah Binti Mohd Daud
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