IthaID: 4007

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 70 GTG>TTG [Val>Leu] HGVS Name: HBA1:c.211G>T
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:

Protein sequence:

Also known as: g.494 (GenBank MK600512.1)

Comments: Reported among alpha-thalassemia patients followed-up in a clinic in the south of Thi Qar province.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links


Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α⁺
Associated Phenotypes: N/A


Chromosome: 16
Locus: NG_000006.1
Locus Location: 37907
Size: 1 bp
Located at: α1
Specific Location: Exon 2

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Odah Al-Musawi AH, Jumaah Alhussna A, Hussein Jalood H, Genetic Analysis of Alpha-Thalassemia Mutations in Thi-Gar Province, Iraq., Arch Razi Inst, 77(3), 976-980, 2022 PubMed
Created on 2023-01-23 12:18:02, Last reviewed on 2023-01-23 12:23:02 (Show full history)

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