IthaID: 2841



Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs35786788 HGVS Name: NC_000006.12:g.135097904G>A

Context nucleotide sequence:
TTACAGTTTTTTCACAAGCAACCCT [A/G] CTGTATTTCTGTGCACAGATATAGT (Strand: +)

Also known as:

Comments: The A allele associated with HbF levels in individuals from Tanzania and Kuwait with sickle cell disease (SCD). The A allele associated with increased HbF levels in pediatric patients with sickle cell anemia (SCA) from southeastern Brazil (n=240).

External Links

Phenotype

Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Hb F levels [HP:0011904] [OMIM:141749]

Location

Chromosome: 6
Locus: NT_025741.15
Locus Location: N/A
Size: 1 bp
Located at: HBS1L-MYB
Specific Location: N/A

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Tanzanian, Kuwaiti, Brazilian
Molecular mechanism: N/A
Inheritance: Quantitative trait
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Mtatiro SN, Mgaya J, Singh T, Mariki H, Rooks H, Soka D, Mmbando B, Thein SL, Barrett JC, Makani J, Cox SE, Menzel S, Genetic association of fetal-hemoglobin levels in individuals with sickle cell disease in Tanzania maps to conserved regulatory elements within the MYB core enhancer., BMC Med. Genet. , 16(0), 4, 2015 PubMed
  2. Sales RR, Belisário AR, Faria G, Mendes F, Luizon MR, Viana MB, Functional polymorphisms of BCL11A and HBS1L-MYB genes affect both fetal hemoglobin level and clinical outcomes in a cohort of children with sickle cell anemia., Ann Hematol, 99(7), 1453-1463, 2020 PubMed
  3. Akbulut-Jeradi N, Fernandez MJ, Al Khaldi R, Sukumaran J, Adekile A, Unique Polymorphisms at , and Loci Associated with HbF in Kuwaiti Patients with Sickle Cell Disease., J Pers Med, 11(6), , 2021 PubMed
Created on 2016-05-17 15:06:41, Last reviewed on 2022-03-30 15:38:50 (Show full history)

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