IthaID: 2054


Names and Sequences

Functionality: Neutral polymorphism Pathogenicity: Benign / Likely Benign
Common Name: IVS II-74 T>G HGVS Name: HBB:c.315+74T>G

Context nucleotide sequence:
CATTCTAAACTGTACCCTGTTACTT [A/C] TCCCCTTCCTATGACATGAACTTAA (Strand: -)

Also known as:

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: 71113
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: Worldwide
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. Papasavva TE, Lederer CW, Traeger-Synodinos J, Mavrou A, Kanavakis E, Ioannou C, Makariou C, Kleanthous M, A minimal set of SNPs for the noninvasive prenatal diagnosis of β-thalassaemia., Ann. Hum. Genet. , 77(2), 115-24, 2013
Created on 2013-06-27 12:59:56, Last reviewed on 2014-05-30 12:49:02 (Show full history)

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