IthaID: 2176
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
---|---|---|---|
Common Name: | CAP +39 C>T | HGVS Name: | HBB:c.-12C>T |
Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
ACAACTGTGTTCACTAGCAACCT [C/T] AAACAGACACCATGGTGCATCT (Strand: -)
Also known as:
Comments: Reported during an epidemiological survey in a student cohort, Guangxi Zhuang Autonomous Region.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
Hemoglobinopathy Group: | Thalassaemia |
---|---|
Hemoglobinopathy Subgroup: | β-thalassaemia |
Allele Phenotype: | β++ (silent) |
Associated Phenotypes: |
Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972] |
Location
Chromosome: | 11 |
---|---|
Locus: | NG_000007.3 |
Locus Location: | 70583 |
Size: | 1 bp |
Located at: | β |
Specific Location: | 5'UTR |
Other details
Type of Mutation: | Point-Mutation(Substitution) |
---|---|
Effect on Gene/Protein Function: | 5'UTR (Transcription) |
Ethnic Origin: | Chinese |
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
- 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
- Xiong F, Sun M, Zhang X, Cai R, Zhou Y, Lou J, Zeng L, Sun Q, Xiao Q, Shang X, Wei X, Zhang T, Chen P, Xu X, Molecular epidemiological survey of haemoglobinopathies in the Guangxi Zhuang Autonomous Region of southern China., Clin. Genet., 78(2), 139-48, 2010 PubMed
Created on 2013-09-30 15:03:21,
Last reviewed on 2022-07-15 10:03:17 (Show full history)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2013-09-30 15:03:21 | The IthaGenes Curation Team | Created |
2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
3 | 2017-06-28 12:29:27 | The IthaGenes Curation Team | Reviewed. |
4 | 2022-07-15 10:03:17 | The IthaGenes Curation Team | Reviewed. Merged with 3600. |
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IthaGenes was last updated on 2024-09-28 12:00:32