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 |
Context nucleotide sequence:
TGCATCTGACTCCTGAGGAGAAGACT [G/-] CTGTCAATGCCCTGTGGGGCAAAGT (Strand: -)
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
Hemoglobinopathy Group: | Thalassaemia |
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Hemoglobinopathy Subgroup: | δ-thalassaemia |
Allele Phenotype: | δ0 |
Associated Phenotypes: | N/A |
Location
Chromosome: | 11 |
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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) |
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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
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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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 PubMed
- 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 PubMed
Created on 2017-07-11 15:57:55,
Last reviewed on 2023-11-17 13:30:56 (Show full history)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2017-07-11 15:57:55 | The IthaGenes Curation Team | Created |
2 | 2017-07-11 16:40:20 | The IthaGenes Curation Team | Reviewed. Allele phenotype and Other Details sections updated. Reference added. |
3 | 2023-11-17 13:30:56 | The IthaGenes Curation Team | Reviewed. DNA info added |
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IthaGenes was last updated on 2024-09-28 12:00:32