×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
CausalMutation
CLINVAR
A downstream element in the human beta-globin promoter: evidence of extended sequence-specific transcription factor IID contacts.
10840054 2000
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
CausalMutation
CLINVAR
A frameshift at codons 77/78 (-C): a novel beta-thalassemia mutation.
15481896 2004
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
CausalMutation
CLINVAR
A new beta-thalassemia mutation (initiation codon ATG----GTG) found in the Japanese population.
1686262 1991
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
CausalMutation
CLINVAR
A new frameshift beta zero-thalassemia mutation (codons 27-28 +C) found in a Chinese family.
1850955 1991
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
CausalMutation
CLINVAR
A new frameshift mutation, insertion of ATCT, at codon 48 in the beta-globin gene causes beta-thalassemia in an Indian proband.
8081396 1994
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
CausalMutation
CLINVAR
A novel beta-globin mutation, beta Durham-NC [beta 114 Leu-->Pro], produces a dominant thalassemia-like phenotype.
8111050 1994
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
CausalMutation
CLINVAR
A novel beta-thalassemia frameshift mutation (codon 14/15), detectable by direct visualization of abnormal restriction fragment in amplified genomic DNA.
2901867 1988
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
CausalMutation
CLINVAR
A significant beta-thalassemia heterogeneity in the United Arab Emirates.
9140720 1997
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
CausalMutation
CLINVAR
Abnormal hemoglobin phenotypes in carriers of mild anemia in Latin America.
20309827 2010
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
CausalMutation
CLINVAR
Abnormal processing of beta Knossos RNA.
6733281 1984
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
CausalMutation
CLINVAR
Analysis of beta globin mutations in the Indian population: presence of rare and novel mutations and region-wise heterogeneity.
18294253 2008
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
CausalMutation
CLINVAR
Base substitution at position -88 in a beta-thalassemic globin gene. Further evidence for the role of distal promoter element ACACCC.
6086605 1984
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
CausalMutation
CLINVAR
Beta zero thalassemia caused by a base substitution that creates an alternative splice acceptor site in an intron.
3780671 1986
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
CausalMutation
CLINVAR
Beta-thalassaemia in Cubans: novel allele increases the genetic diversity at the HBB locus in the Caribbean.
10815781 2000
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
CausalMutation
CLINVAR
beta-Thalassaemia intermedia in a Turkish girl: homozygosity for G-->A substitution at +22 relative to the beta-globin cap site.
11722417 2001
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
CausalMutation
CLINVAR
Beta-thalassemia alleles and unstable hemoglobin types among Russian pediatric patients.
8037185 1994
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
CausalMutation
CLINVAR
Beta-thalassemia in the Korean population.
12144056 2002
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
CausalMutation
CLINVAR
beta-thalassemia mutations in Japanese and Koreans.
9101288 1997
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
CausalMutation
CLINVAR
Black beta-thalassemia homozygotes with specific sequence variations in the 5' hypersensitive site-2 of the locus control region have high levels of fetal hemoglobin.
1384315 1992
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
CausalMutation
CLINVAR
Characterisation and confirmation of rare beta-thalassaemia mutations in the Malay, Chinese and Indian ethnic groups in Malaysia.
17008283 2006
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
CausalMutation
CLINVAR
Clinical and haematological features in a compound heterozygote (HBB:c.92 + 5G > C/HBB:c.93-2A > C) case of thalassaemia major.
19486366 2010
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
CausalMutation
CLINVAR
Clinical and molecular aspects of haemoglobinopathies in Tunisia.
14734204 2004
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
CausalMutation
CLINVAR
Co-existence of the codon 16 (-C) (beta(o)) and codon 10 (C --> A) (beta+) mutations on the same beta-globin gene.
12779277 2003
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
CausalMutation
CLINVAR
Combination of Hb Knossos [Cod 27 (G-T)] and IVSII-745 (C-G) in a Turkish patient with beta-thalassemia major.
17949282 2007
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
CausalMutation
CLINVAR
Comprehensive and efficient HBB mutation analysis for detection of beta-hemoglobinopathies in a pan-ethnic population.
20395516 2010