View transcript #00000003

Transcript name breast cancer 1, early onset, transcript variant 1
Gene name BRCA1 (BRCA1, DNA repair associated)
Chromosome 17
Transcript - NCBI ID NM_007294.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_009225.1
Protein - Ensembl ID -
Protein - Uniprot ID -


Variants

13 entries on 1 page. Showing entries 1 - 13.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/+ 2 c.68_69delAG r.(?) p.(Glu23Valfs*17)
+/+ 4 c.181T>G r.(?) p.(Cys61Gly)
?/? 10 c.1391C>T r.(?) p.(Thr464Ile)
./. 10 c.1703C>G r.(?) p.(Pro568Arg)
./+ 10 c.2102del r.(?) p.(Lys701Serfs*2)
+/+ 10 c.3481_3491delGAAGATACTAG r.(?) p.(Glu1161Phefs*3)
?/? 10 c.3519T>G r.(?) p.(Ser1173Arg)
./? 10 c.3519T>G r.(?) p.(Ser1173Arg)
+/+ 10 c.3700_3704delGTAAA r.(?) p.(Val1234Glnfs*8)
./+ 10 c.3762delG r.(?) p.(Asn1255Thrfs*9)
./. 12 c.4323C>T r.(=) p.(=)
+/+ 14 c.4675+1G>A r.spl? p.?
./? 22 c.5407-21C>G r.(=) p.(=)
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