
IthaID: 2564
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
---|---|---|---|
Common Name: | 3'UTR +118 (A>G) | HGVS Name: | HBB:c.*118A>G |
Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
TCTGGATTCTGCCTAATAAAAAAC [A/G] TTTATTTTCATTGCAATGATGTAT (Strand: -)
Also known as: 3'UTR +1592 (A>G)
Comments: Found in combination with CD 39 (C>T), diagnosed with β-thal intermedia. Carriers do not have hematological parameters associated with β-thal.
External Links
Phenotype
Hemoglobinopathy Group: | Thalassaemia |
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Hemoglobinopathy Subgroup: | β-thalassaemia |
Allele Phenotype: | β++ (silent) |
Associated Phenotypes: | N/A |
Location
Chromosome: | 11 |
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Locus: | NG_000007.3 |
Locus Location: | 72136 |
Size: | 1 bp |
Located at: | β |
Specific Location: | 3'UTR |
Other details
Type of Mutation: | Point-Mutation(Substitution) |
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Effect on Gene/Protein Function: | N/A |
Ethnic Origin: | Spanish |
Molecular mechanism: | N/A |
Inheritance: | Recessive |
DNA Sequence Determined: | Yes |
Publications / Origin
- Herrera MA, De La Fuente-Gonzalo F, González FA, Nieto JM, Dominguez AB, Villegas A, Ropero P, Identification of a novel mutation in the β-globin gene 3' untranslated region (HBB: c.*+118A > G) in Spain., Hemoglobin , 39(1), 30-5, 2015
Created on 2015-12-03 11:34:42,
Last reviewed on 2022-05-13 12:41:55 (Show full history)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2015-12-03 11:34:42 | The IthaGenes Curation Team | Created |
2 | 2017-06-28 12:50:16 | The IthaGenes Curation Team | Reviewed. Allele phenotype corrected |
3 | 2022-05-13 12:41:55 | The IthaGenes Curation Team | Reviewed. Common name corrected. |
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IthaGenes was last updated on 2022-08-10 08:44:57