All variants in the BRCA1 gene

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

28 entries on 1 page. Showing entries 1 - 28.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Owner     
?/? 1 c.-121G>C r.(=) p.(=) g.41277389C>G - BRCA1_000029 - Florian Bayersdorfer
?/? 1 c.26A>C r.(?) p.(Glu9Ala) g.41276088T>G - BRCA1_000028 - Florian Bayersdorfer
+/+ 1 c.65T>C r.(?) p.(Leu22Ser) g.41276049A>G - BRCA1_000014 - Florian Bayersdorfer
+/+ 2 c.68_69del r.(?) p.(Glu23Valfs*17) g.41276045_41276046del - BRCA1_000005 - Florian Bayersdorfer
+/+ 4 c.181T>G r.(?) p.(Cys61Gly) g.41258504A>C - BRCA1_000006 - Florian Bayersdorfer
+/+ 10 c.1216_1217del r.(?) p.(Asn406Cysfs*5) g.41246331_41246332del - BRCA1_000025 - Florian Bayersdorfer
?/-? 10 c.1391C>T r.(?) p.(Thr464Ile) g.41246157G>A - BRCA1_000011 - Florian Bayersdorfer
+/+ 10 c.1687C>T r.(?) p.(Gln563*) g.41245861G>A - BRCA1_000024 - Florian Bayersdorfer
?/-? 10 c.1703C>G r.(?) p.(Pro568Arg) g.41245845G>C - BRCA1_000007 - Florian Bayersdorfer
+/+ 10 c.1916T>A r.(?) p.(Leu639*) g.41245632A>T - BRCA1_000023 - Florian Bayersdorfer
./+ 10 c.2102del r.(?) p.(Lys701Serfs*2) g.41245446del - BRCA1_000010 - Florian Bayersdorfer
+/+ 10 c.2764_2767del r.(?) p.(Thr922Leufs*77) g.41244781_41244784del - BRCA1_000022 - Florian Bayersdorfer
?/? 10 c.3324_3326del r.(?) p.(Lys1110del) g.41244222_41244224del - BRCA1_000026 - Florian Bayersdorfer
+/+ 10 c.3481_3491del r.(?) p.(Glu1161Phefs*3) g.41244057_41244067del - BRCA1_000009 - Florian Bayersdorfer
?/-? 10 c.3519T>G r.(?) p.(Ser1173Arg) g.41244029A>C - BRCA1_000012 - Florian Bayersdorfer
+/+ 10 c.3700_3704del r.(?) p.(Val1234Glnfs*8) g.41243844_41243848del - BRCA1_000021 - Florian Bayersdorfer
+/+ 10 c.3756_3759del r.(?) p.(Ser1253Argfs*10) g.41243789_41243792del - BRCA1_000020 - Florian Bayersdorfer
+/+ 10 c.3762del r.(?) p.(Asn1255Thrfs*9) g.41243786del - BRCA1_000019 - Florian Bayersdorfer
./+ 10 c.3762delG r.(?) p.(Asn1255Thrfs*9) g.41243786delC - BRCA1_000003 - Florian Bayersdorfer
+/+ 10 c.3967C>T r.(?) p.(Gln1323*) g.41243581G>A - BRCA1_000018 - 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
+/+ 15 c.4689C>G r.(?) p.(Tyr1563*) g.41223242G>C - BRCA1_000017 - Florian Bayersdorfer
+/+ 17 c.5096G>A r.(?) p.(Arg1699Gln) g.41215947C>T - BRCA1_000013 - Florian Bayersdorfer
+/+ 17 c.5137del r.(?) p.(Val1713*) g.41215906del - BRCA1_000016 - Florian Bayersdorfer
+/+ 19 c.5266dup r.(?) p.(Gln1756Profs*74) g.41209080dup - BRCA1_000015 - Florian Bayersdorfer
./? 22 c.5407-21C>G r.(=) p.(=) g.41199741G>C - BRCA1_000004 - Florian Bayersdorfer
?/? 22 c.5423T>G r.(?) p.(Val1808Gly) g.41199704A>C - BRCA1_000027 - Florian Bayersdorfer
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