IthaID: 3959

Names and Sequences

Functionality: Neutral polymorphism Pathogenicity: N/A
Common Name: HBG1-HBG2 deletion HGVS Name: NG_000007.3:g.43348_48271del

Also known as:

Comments: Found in a case with normal haematological indices (Hb 12.5 g/dL, MCV 93.2 fL, MCH 30.8 pg, Hb A2 2.7% and HbF 0%).

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: 43348
Size: 4.924 kb
Deletion involves: ,

Other details

Type of Mutation: Deletion
Ethnic Origin: Han
Molecular mechanism: N/A
Inheritance: Recessive
DNA Breakpoint Determined: Yes

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To the best of our knowledge, this is unpublished data.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, Shiqiang2022-08-04First report.
Created on 2022-08-11 13:28:29, Last reviewed on 2022-08-11 13:37:51 (Show full history)

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