
IthaID: 1404
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
---|---|---|---|
Common Name: | N/A | HGVS Name: | NG_000007.3:g.63160_70572dup |
Hb Name: | Hb Hong Kong | Protein Info: | βδ hybrid (β through CAP site; δ from exon 1) |
Also known as: | Hb Anti-Lepore Hong Kong |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: Anti-Lepore βδ hybrid. A crossover within a 54-bp region spanning the junction of cap site (CAP) and exon 1. Protein is identical to δ globin.
External Links
Phenotype
Hemoglobinopathy Group: | Structural Haemoglobinopathy |
---|---|
Hemoglobinopathy Subgroup: | δ-chain variant |
Allele Phenotype: | δβ fusion |
Stability: | N/A |
Oxygen Affinity: | N/A |
Associated Phenotypes: | N/A |
Location
Chromosome: | 11 |
---|---|
Locus: | NG_000007.3 |
Locus Location: | N/A |
Size: | N/A |
Fusion involves: | δ, β |
Other details
Type of Mutation: | Fusion |
---|---|
Ethnic Origin: | Chinese |
Molecular mechanism: | N/A |
Inheritance: | Recessive |
DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- So CC, Chan AY, Tsang ST, Lee AC, Au WY, Ma ES, Chan LC, A novel beta-delta globin gene fusion, anti-Lepore Hong Kong, leads to overexpression of delta globin chain and a mild thalassaemia intermedia phenotype when co-inherited with beta(0)-thalassaemia., British journal of haematology, 136(1), 158-62, 2007
Created on 2010-06-16 16:13:17,
Last reviewed on 2021-11-23 13:02:22 (Show full history)
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