IthaID: 3981

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 5 GCC>ACC [Ala>Thr] HGVS Name: HBA1:c.16G>A
Hb Name: Hb Hengqin I Protein Info: N/A

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: Reported in two Chinese subjects who underwent thalassemia-related examinations.

External Links


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A


Chromosome: 16
Locus: NG_000006.1
Locus Location: 37595
Size: 1 bp
Located at: α1
Specific Location: Exon 1

Other details

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

In silico pathogenicity prediction

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Publications / Origin

  1. Zhang Q, Wang G, Sun D, Lin W, Yan T, Wu Y, Wu M, Chen J, Zou S, Xie W, Zhou Y, Wang Y, He L, Liu Y, Qiu Z, Hu L, Lin B, Zhou X, Li Y, Xu X, MALDI-TOF-MS for Rapid Screening and Typing of β-Globin Variant and β-Thalassemia through Direct Measurements of Intact Globin Chains., Clin Chem, 2022 PubMed
  2. Pan Y, Chen M, Zhang Y, Zhang M, Chen L, Lin N, Xu L, Huang H, Analysis of genotype-phenotype correlation in patients with α-thalassemia from Fujian province, Southeastern China., J Clin Lab Anal, 36(10), e24696, 2022 PubMed
Created on 2022-12-06 13:14:23, Last reviewed on 2022-12-06 15:34:46 (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.