IthaID: 3232
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 10 GCT>-CT | HGVS Name: | HBD:c.31delG |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
TGCATCTGACTCCTGAGGAGAAGACT [G/-] CTGTCAATGCCCTGTGGGGCAAAGT (Strand: -)
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | δ-thalassaemia |
| Allele Phenotype: | δ0 |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 63213 |
| Size: | 1 bp |
| Located at: | δ |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | Chinese, Chinese Han |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Liu N, Xie XM, Zhou JY, Li R, Liao C, Li DZ, Analysis of δ-globin gene mutations in the Chinese population., Hemoglobin , 37(1), 85-93, 2013
- Zhong LY, Xie YJ, Chen PS, Feng YW, Liu M, Huang B, He XH, Gan X, [Analysis of haematological phenotype and mutation spectrum of δ-globin gene from Guangdong area in Chinese Han prenatal population]., Zhonghua Yi Xue Za Zhi , 97(20), 1580-1583, 2017
Created on 2017-07-11 15:57:55,
Last reviewed on 2023-11-17 13:30:56 (Show full history)
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