IthaID: 2056


Names and Sequences

Functionality: Neutral polymorphism Pathogenicity: Benign / Likely Benign
Common Name: IVS II-666 (C>T) HGVS Name: HBB:c.316-185C>T

Context nucleotide sequence:
TTCTGGGTTAAGGCAATAGCAATAT [C/T] TCTGCATATAAATATTTCTGCATAT (Strand: -)

Also known as:

Comments: Neutral polymorphism used in high-density β-locus and genome-wide SNP mapping [PMID: 18829352]. Found in both a heterozygous and homozygous state in the population of Odisha State, India. No hematologic or phenotypic data reported [PMID: 24099628].

We follow the HGVS sequence variant nomenclature and IUPAC standards.

Phenotype

Allele Phenotype:Neutral
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71705
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
Molecular mechanism: N/A
Inheritance: Quantitative trait
DNA Sequence Determined: Yes

In silico pathogenicity prediction

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
  2. 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
Created on 2013-06-27 13:07:38, Last reviewed on 2019-05-31 10:26:01 (Show full history)

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