IthaID: 4064

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD109/110 (-GCT +CAGCACGATG) HGVS Name: HBB:c.330_332delinsCAGCACGATG
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:

Also known as:

Comments: Found in a female newborn together with Hb Zurich-Langstrasse, HBB:c.[151A>T;316-197C>T], by DNA sequencing. CBC: Hb 17.4 g/dL, MCV 99.0 fL, MCH 33.9 pg, MCHC 343 g/L. CE: Hb F 100%.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 71904
Size: 3 bp
Located at: β

Other details

Type of Mutation: Insertion & Deletion
Ethnic Origin: Chinese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence 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To the best of our knowledge, this is unpublished data.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!


1Li, Youqiong2023-07-31First report.
Created on 2023-08-04 09:40:55, Last reviewed on (Show full history)

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