IthaID: 199
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | IVS II-1 (-G) | HGVS Name: | HBB:c.315+1delG |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
GCACGTGGATCCTGAGAACTTCAGG [G/-] TGAGTCTATGGGACGCTTGATGTTT (Strand: -)
Also known as:
Comments: Found in a heterozygous state with mild anaemia in a German Caucasian family of Huguenot descent. Presented with thalassaemia intermedia in a proband with alpha-globin triplication. Absence of aberrant or unstable haemoglobin (Hb) fraction in biochemical Hb analyses.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | β0 Dominant |
| Associated Phenotypes: |
Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71040 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Splice junction (mRNA Processing) |
| Ethnic Origin: | German |
| 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
- Lahr G, Brintrup J, Over S, Feurle GE, Debatin KM, Kohne E, Codon 104(-G), a dominant beta0-thalassemia-like phenotype in a German Caucasian family is associated with mild chronic hemolytic anemia but influenced in severity by co-inherited genetic factors., Haematologica , 92(9), 1264-5, 2007 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2021-12-06 09:22:52 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:15 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:28:32 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2019-11-11 09:33:01 | The IthaGenes Curation Team | Reviewed. HGVS name, Context sequence and Location corrected. dbSNP link removed. Comment added. |
| 4 | 2019-11-11 11:13:29 | The IthaGenes Curation Team | Reviewed. dbSNP link added. |
| 5 | 2021-12-06 09:22:15 | The IthaGenes Curation Team | Reviewed. HGVS and common names, corrected. |
| 6 | 2021-12-06 09:22:52 | The IthaGenes Curation Team | Reviewed. Effect on gene corrected. |
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IthaGenes was last updated on 2024-11-20 13:24:07