IthaID: 173
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 64 (-G) | HGVS Name: | HBB:c.194delG |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
GGCAACCCTAAGGTGAAGGCTCATG [-/G] CAAGAAAGTGCTCGGTGCCTTTAG (Strand: -)
Also known as:
Comments: Found as a novel mutation in a Swiss patient. The loss of a nt G from codon 64 changes the reading frame with a stop codon at codon 88 resulting in a premature termination of translation.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | β0 |
| Associated Phenotypes: |
Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70918 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | Swiss |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
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
- Chehab FF, Winterhalter KH, Kan YW, Characterization of a spontaneous mutation in beta-thalassemia associated with advanced paternal age., Blood, 74(2), 852-4, 1989 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2019-11-11 11:10:53 (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 | 2019-11-08 14:22:49 | The IthaGenes Curation Team | Reviewed. HGVS name, Context sequence and Location corrected. Comment added. |
| 4 | 2019-11-08 14:23:38 | The IthaGenes Curation Team | Reviewed. dbSNP link removed. |
| 5 | 2019-11-11 11:10:53 | The IthaGenes Curation Team | Reviewed. dbSNP link added. |
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IthaGenes was last updated on 2024-11-20 13:24:07