IthaID: 6
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | -92 (C>T) | HGVS Name: | HBB:c.-142C>T |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
TCACTTAGACCTCACCCTGTGGAGC [C/T] ACACCCTAGGGTTGGCCAATCTACT (Strand: -)
Also known as:
Comments: An updated case was reported in a 33-year-old female in association with −α3.7 with a slightly increased Hb A2 level.
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: | 70453 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Promoter |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Promoter (Transcription) |
| Ethnic Origin: | Mediterranean |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Frequencies
Publications / Origin
- Divoky V, Baysal E, Schiliro G, Dibenedetto SP, Huisman TH, A mild type of Hb S-beta(+)-thalassemia [-92(C-->T)] in a Sicilian family., American journal of hematology, 42(2), 225-6, 1993
- Kimberland ML, Boehm CD, Kazazian HH, Two novel beta-thalassemia alleles: poly A signal (AATAAA-->AAAA) and -92 C-->T., Human mutation, 5(3), 275-6, 1995
- Rosatelli MC, Faà V, Meloni A, Fiorenza F, Galanello R, Gasperini D, Amendola G, Cao A, A promoter mutation, C-->T at position -92, leading to silent beta-thalassaemia., British journal of haematology, 90(2), 483-5, 1995
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Petrou, Miranda | 2022-09-23 | Report of an update. |
Created on 2010-06-16 16:13:14,
Last reviewed on 2022-09-23 11:11:42 (Show full history)
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