View all transcript variants in gene BRCA1

Information The variants shown are described using the NM_007294.3 transcript reference sequence.

13 entries on 1 page. Showing entries 1 - 13.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Owner     
+/+ 2 c.68_69delAG r.(?) p.(Glu23Valfs*17) g.41276045_41276046delCT - BRCA1_000005 - Florian Bayersdorfer
+/+ 4 c.181T>G r.(?) p.(Cys61Gly) g.41258504A>C - BRCA1_000006 - Florian Bayersdorfer
?/? 10 c.1391C>T r.(?) p.(Thr464Ile) g.41246157G>A - BRCA1_000011 - Florian Bayersdorfer
./. 10 c.1703C>G r.(?) p.(Pro568Arg) g.41245845G>C - BRCA1_000007 - Florian Bayersdorfer
./+ 10 c.2102del r.(?) p.(Lys701Serfs*2) g.41245446del - BRCA1_000010 - Florian Bayersdorfer
+/+ 10 c.3481_3491delGAAGATACTAG r.(?) p.(Glu1161Phefs*3) g.41244057_41244067delCTAGTATCTTC - BRCA1_000009 - Florian Bayersdorfer
?/? 10 c.3519T>G r.(?) p.(Ser1173Arg) g.41244029A>C - BRCA1_000012 - Florian Bayersdorfer
./? 10 c.3519T>G r.(?) p.(Ser1173Arg) g.41244029A>C - BRCA1_000012 - Florian Bayersdorfer
+/+ 10 c.3700_3704delGTAAA r.(?) p.(Val1234Glnfs*8) g.41243844_41243848delTTTAC - BRCA1_000001 - Florian Bayersdorfer
./+ 10 c.3762delG r.(?) p.(Asn1255Thrfs*9) g.41243786delC - BRCA1_000003 - Florian Bayersdorfer
./. 12 c.4323C>T r.(=) p.(=) g.41234455G>A - BRCA1_000008 - Florian Bayersdorfer
+/+ 14 c.4675+1G>A r.spl? p.? g.41226347C>T - BRCA1_000002 - Florian Bayersdorfer
./? 22 c.5407-21C>G r.(=) p.(=) g.41199741G>C - BRCA1_000004 - Florian Bayersdorfer
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