IthaID: 3007


Names and Sequences

Functionality: Neutral polymorphism Pathogenicity: Benign / Likely Benign
Common Name: rs713040 HGVS Name: NG_059281.1:g.5059T>C

Context nucleotide sequence:
CCTCAAACAGACACCATGGTGCA [T>C] CTGACTCCTGAGGAGAAGTCTG (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as: NM_000518.5(HBB):c.9T>C

Comments: Neutral polymorphism with a global allele frequency of 0.77 in gnomAD v2.1.1. Found in a heterozygous and homozygous state in healthy individuals from the 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: 70603
Size: 1 bp
Located at: β
Specific Location: Exon 1

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. 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 2016-08-24 11:14:59, Last reviewed on 2021-02-24 13:00:59 (Show full history)

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