IthaID: 2177
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | 3'UTR +32 A>C | HGVS Name: | HBB:c.*32A>C |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as: 3'UTR +1506 (A>C), Terminal CD +32 A>C
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | β+ |
| Associated Phenotypes: |
Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 72050 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | 3'UTR |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Other 3'UTR site (mRNA Processing) |
| Ethnic Origin: | Chinese, Indian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
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
- Chen W, Zhang X, Shang X, Cai R, Li L, Zhou T, Sun M, Xiong F, Xu X, The molecular basis of beta-thalassemia intermedia in southern China: genotypic heterogeneity and phenotypic diversity., BMC Med. Genet. , 11(1), 31, 2010 PubMed
- Zhuang J, Zheng Y, Wang Y, Zhuang Q, Jiang Y, Xie Q, Zeng S, Zeng J, Identification of a new β-thalassaemia variant Term CD+32(HBB: c.32A>C) in two Chinese families., J. Clin. Pathol., 73(2), 1-4, 2020 PubMed
- Sen A, Seenappa V, Chakrabarti P, Dolai TK, First Report of the 3'-Untranslated Region +1506 (A>C) [NM_000518.5: c.*32A>C] mutation on the β-Globin Gene in the Indian Population., Hemoglobin, 2021 PubMed
Created on 2013-09-30 15:13:46,
Last reviewed on 2021-12-15 14:02:42 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2013-09-30 15:13:46 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2014-10-09 16:22:56 | The IthaGenes Curation Team | Reviewed. Common name corrected. |
| 4 | 2020-03-25 10:36:43 | The IthaGenes Curation Team | Reviewed. Edits. |
| 5 | 2020-08-07 11:17:39 | The IthaGenes Curation Team | Reviewed. Reference added. |
| 6 | 2020-08-07 11:29:01 | The IthaGenes Curation Team | Reviewed. Reference added. |
| 7 | 2021-12-15 14:01:57 | The IthaGenes Curation Team | Reviewed. Common name corrected. Reference, Origin and dbSNP added. |
| 8 | 2021-12-15 14:02:42 | The IthaGenes Curation Team | Reviewed. Synonyms added. |
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IthaGenes was last updated on 2024-11-20 13:24:07