The Singapore Human Mutation
And Polymorphism Database

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<< Gene or Locus List >>

HBB
OMIM: +141900
Gene Name: hemoglobin, beta

direct detection of mutant beta-globin gene enables early prenatal diagnosis of beta-thalassemia

17 mutations/polymorphisms recorded....
[1] -28A>G (TATA box mutation) : Paper 1
[2] 105delC : Paper 1
[3] 123/126delTCTT : Paper 1
[4] 129G>T : Paper 1
[5] 1G>T : Paper 1
[6] 1T>G : Paper 1
[7] 213/216insA : Paper 1
[8] 24/27insG : Paper 1
[9] 48delC : Paper 1
[10] 51A>T : Paper 1
[11] 57A>G : Paper 1
[12] 5G>C : Paper 1
[13] 654C>T : Paper 1
[14] 81/84insC : Paper 1
[15] Mutation at Poly A (AATAAA -> AATAGA) : Paper 1
[16] Polymorphism of gene : Paper 1
[17] Unknown mutation : Paper 1



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