IthaID: 3013


Names and Sequences

Functionality: Neutral polymorphism Pathogenicity: Benign / Likely Benign
Common Name: IVS II-643 (C>G) HGVS Name: HBB:c.316-208C>G

Also known as:

Comments: Possibly a neutral polymorphism. Found as a heterozygote in the population of Odisha State, India. No hematologic or phenotypic data reported [PMID: 24099628].

External Links

Phenotype

Allele Phenotype:Neutral
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71682
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: Indian
Molecular mechanism: N/A
Inheritance: Quantitative trait
DNA Sequence Determined: Yes

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 11:52:10, Last reviewed on 2020-09-28 16:51:48 (Show full history)

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