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     
+/. 3 c.115T>C - r.(?) p.(Cys39Arg) - ClinVar Unknown g.43115745A>G - P S Ng et al. (2016), dbSNP, ClinVar BRCA1_000044 rs80357164 1/2 - DNA SEQ BRCA1 P S Ng et al. (2016) F Malaysia Malay - - - 1 Nuur Athirah Binti Mohd Daud
+/. - c.115T>C C39R r.(?) p.(Cys39Arg) frameshift ClinVar Unknown g.43115745A>G C39R Wei Xiong Wen et al. (2018), dbSNP, ClinVar BRCA1_000044 rs80357164 2/490 - DNA MLPA, SEQ-NG-I BRCA1 Wei Xiong Wen et al. (2018) - Malaysia Malay - - - 1 Nuur Athirah Binti Mohd Daud
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