IthaID: 3565
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | IVS I-6 (T>G) | HGVS Name: | HBB:c.92+6T>G |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
GGTGGTGAGGCCCTGGGCAGGTTGG [T>G] ATCAAGGTTACAAGACAGGTTTAAG (Strand: -)
Also known as:
Comments: Found in a heterozygous state in three out of five members of a Chinese family, who presented with clinical mild anaemia.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
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: | 70692 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Intron 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Consensus splice site (mRNA Processing) |
| 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
- Luo H, Zou Y, Liu Y, A Novel β-Thalassemia Mutation [IVS-I-6 (T>G), : c.92+6T>G] in a Chinese Family., Hemoglobin, 2020 PubMed
Created on 2020-01-31 13:46:54,
Last reviewed on (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2020-01-31 13:46:54 | The IthaGenes Curation Team | Created |
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IthaGenes was last updated on 2024-12-03 11:48:06