IthaID: 3948

Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: -α3.7αα (α triplication) HGVS Name: N/A

Also known as:

Comments: Complex α globin gene cluster rearrangment with three α globin genes on one chromosome, comprising the wild-type α1 and α2 genes and the -α3.7 hybrid gene, which is the result of the -α3.7 deletion [IthaID: 300]. Detected by MLPA and high resolution array CGH in a heterozygous state and in trans with the --SEA deletion [IthaID: 309].

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links


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


Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: N/A
Located at: α2, α1, α3.7 hybrid

Other details

Type of Mutation: Combination
Ethnic Origin: Han
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

To the best of our knowledge, this is unpublished data. Please use with caution!


1Luo, Shiqiang2022-07-21First report.
Created on 2022-07-29 12:51:44, Last reviewed on 2024-03-07 11:51:31 (Show full history)

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