The Singapore Human Mutation
And Polymorphism Database

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<< Gene or Locus List >>

BRCA1
OMIM: +113705
Gene Name: breast cancer 1, early onset

breast carcinoma susceptibilty gene (BRCA1) mutation confers substantial increased lifetime risks of developing breast carcinoma

51 mutations/polymorphisms recorded....
[1] 1509_1510delC : Paper 1
[2] 1522_1523delG : Paper 1
[3] 1742G>A in exon 11 : Paper 1
[4] 1788A>G in exon 11 : Paper 1
[5] 1863A>G in exon 11 : Paper 1
[6] 1871T>C in exon 11 : Paper 1
[7] 2048T>C in exon 11 : Paper 1
[8] 2086A>G in exon 11 : Paper 1
[9] 2169C>T in exon 11 : Paper 1
[10] 2201C>T in exon 11 : Paper 1
[11] 233G>A in exon 3 : Paper 1 | Paper 2 | Paper 3
[12] 2430insC : Paper 1
[13] 2430T>C in exon 11 : Paper 1
[14] 2432G>C in exon 11 : Paper 1
[15] 2731C>T in exon 11 : Paper 1
[16] 2732insT : Paper 1
[17] 2845_2846insA in exon 11 : Paper 1
[18] 3232A>G in exon 11 : Paper 1
[19] 3300T>A : Paper 1
[20] 337877/80_3378/81delG : Paper 1
[21] 3667A>G : Paper 1
[22] 3668A>G in exon 11 : Paper 1
[23] 38G>A in exon 3 : Paper 1
[24] 421-70G>A at intron 6 : Paper 1
[25] 4427T>C in exon 13 : Paper 1 | Paper 2 | Paper 3
[26] 4446C>T in exon 13 : Paper 1
[27] 4466A>G in exon 13 : Paper 1
[28] 4956A>G in exon 16 : Paper 1 | Paper 2
[29] 5106-68A>G in intron 16 : Paper 1
[30] 5271+31_5271+34delCTTT at intron 18 : Paper 1
[31] 5271+66G>A at intron 18 : Paper 1
[32] 5271G>A or 5273G>A in intron 18 : Paper 1
[33] 5429G>A in exon 21 : Paper 1
[34] 5545T>C in exon 23 : Paper 1
[35] 5711+31G>A : Paper 1
[36] 666-59_666-58delT at intron 8 : Paper 1
[37] 690G>A at exon 9 : Paper 1
[38] 713-34T>A at intron 9 : Paper 1
[39] c.2844_2845insA in exon 11 : Paper 1
[40] c.335C>A in exon 6 : Paper 1
[41] c.420+26CA>AC : Paper 1
[42] c.432-44G>A : Paper 1
[43] c.5106-68A>G : Paper 1
[44] c.5272+72G>C : Paper 1
[45] c.561-34T>C : Paper 1
[46] c.778C>A : Paper 1



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