IthaID: 3635

Names and Sequences

Functionality: Neutral polymorphism Pathogenicity: N/A
Common Name: CD 26 GAG>GAA HGVS Name: HBB:c.81G>A

Context nucleotide sequence:

Also known as:

Comments: Reported as a neutral polymorphism; found in a homozygous state in a subject with beta-thalassaemia. No genotype information given.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links


Allele Phenotype:Neutral
Associated Phenotypes: N/A


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70675
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: Iranian
Molecular mechanism: N/A
Inheritance: Quantitative trait
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Publications / Origin

  1. Jalilian M, Azizi Jalilian F, Ahmadi L, Amini R, Esfehani H, Sosanian M, Rabbani B, Maleki M, Mahdieh N, The Frequency of HBB Mutations Among β-Thalassemia Patients in Hamadan Province, Iran., Hemoglobin, 41(1), 61-64, 2017
Created on 2020-09-28 16:36:49, Last reviewed on 2020-09-28 17:01:42 (Show full history)

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