IthaID: 4010


Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: αααα(anti-3.7) HGVS Name: N/A

Also known as:

Comments: Identified by third-generation sequencing (CATSA) in Han ethnic individuals in Hainan Province. Heterozygosity for this α gene defect associated with moderate anemia in the presence of a normal β genotype, and with thalassemia intermedia in the presence of a β mutant allele.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links

Phenotype

Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: N/A

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: N/A
Located at: α2, α1

Other details

Type of Mutation: Duplication
Ethnic Origin: Chinese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Publications / Origin

  1. Huang R, Liu Y, Xu J, Lin D, Mao A, Yang L, Zhong G, Wang H, Xu R, Chen Y, Zhou Q, Back-to-Back Comparison of Third-Generation Sequencing and Next-Generation Sequencing in Carrier Screening of Thalassemia., Arch Pathol Lab Med, 2023
Created on 2023-01-23 15:06:36, Last reviewed on 2024-02-23 09:35:12 (Show full history)

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