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 |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
GGTGGTGAGGCCCTGGGCAGGTTGG [T>G] ATCAAGGTTACAAGACAGGTTTAAG (Strand: -)
Comments: Found in a heterozygous state in three out of five members of a Chinese family, who presented with clinical mild anaemia.
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
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)
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