IthaID: 3576

Names and Sequences

Functionality: Neutral polymorphism Pathogenicity: Benign / Likely Benign
Common Name: rs10768683 HGVS Name: NG_000007.3:g.71055G>C

Context nucleotide sequence:

Also known as: IVS II-16 G>C, HBB:c.315+16G>C

Comments: Variant identifies the polymorphic site AvaII in the beta-globin gene cluster that is used in the characterization of βS haplotypes (Benin, Bantu, Senegal, Cameroon, Arab-Indian). It has been included on SNP chips to infer β-haplotypes [PMID: 18829352, 28800727, 23606168] and to develop a fetal haplotype phase strategy for the NIPD of beta-thalassaemia [PMID: 22896714]. It has been found in a heterozygous and homozygous state in a normal healthy population from urban eastern India [PMID: 24099628], as well as in Mohajir families from Pakistan [PMID: 22392582].

External Links


Allele Phenotype:Neutral
Associated Phenotypes: N/A


Chromosome: 11
Locus: NG_000007.3
Locus Location: 71055
Size: 1 bp
Located at: β
Specific Location: Intron 2

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Liu L, Muralidhar S, Singh M, Sylvan C, Kalra IS, Quinn CT, Onyekwere OC, Pace BS, High-density SNP genotyping to define beta-globin locus haplotypes., Blood Cells Mol. Dis. , 42(1), 16-24, 2009 PubMed
  2. Lam KW, Jiang P, Liao GJ, Chan KC, Leung TY, Chiu RW, Lo YM, Noninvasive prenatal diagnosis of monogenic diseases by targeted massively parallel sequencing of maternal plasma: application to β-thalassemia., Clin. Chem. , 58(10), 1467-75, 2012 PubMed
  3. Moatter T, Kausar T, Aban M, Ghani S, Pal JA, Prenatal screening for β-thalassemia major reveals new and rare mutations in the Pakistani population., Int. J. Hematol. , 95(4), 394-8, 2012 PubMed
  4. Sheehan VA, Luo Z, Flanagan JM, Howard TA, Thompson BW, Wang WC, Kutlar A, Ware RE, , Genetic modifiers of sickle cell anemia in the BABY HUG cohort: influence on laboratory and clinical phenotypes., Am. J. Hematol. , 88(7), 571-6, 2013 PubMed
  5. Sahoo SS, Biswal S, Dixit M, Distinctive mutation spectrum of the HBB gene in an urban eastern Indian population., Hemoglobin , 38(1), 33-8, 2014 PubMed
  6. Shaikho EM, Farrell JJ, Alsultan A, Qutub H, Al-Ali AK, Figueiredo MS, Chui DHK, Farrer LA, Murphy GJ, Mostoslavsky G, Sebastiani P, Steinberg MH, A phased SNP-based classification of sickle cell anemia HBB haplotypes., BMC Genomics, 18(1), 608, 2017 PubMed
Created on 2020-03-10 15:53:25, Last reviewed on 2020-04-22 12:27:46 (Show full history)

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