IthaID: 4103
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | p.Gly176AlafsX179 | HGVS Name: | NC_000019.10(NM_006563.5):c.525_526insGCGCCGG |
Also known as:
Comments: Heterozygous KLF1 frameshift variant co-inherited with a β0 allele [IthaID: 77] in a case diagnosed with hereditary spherocytosis and HPFH complicated with a β-thalassemia trait. Initially misdiagnosed as thalassemia intermedia. The KLF1 variant is most likely responsible for hte high percentage of Hb F in the proband.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Allele Phenotype (Cis): | N/A |
|---|---|
| Allele Phenotype (Trans): | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 19 |
|---|---|
| Locus: | NG_013087.1 |
| Locus Location: | 6499 |
| Size: | 7 bp |
| Located at: | KLF1 |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Insertion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Quantitative trait |
| 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
To the best of our knowledge, this is unpublished data. Please use with caution!
Created on 2024-07-22 16:32:56,
Last reviewed on 2024-07-22 16:39:18 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2024-07-22 16:32:56 | The IthaGenes Curation Team | Created |
| 2 | 2024-07-22 16:34:32 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2024-07-22 16:39:18 | The IthaGenes Curation Team | Reviewed. |
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IthaGenes was last updated on 2024-10-17 15:51:44