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
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To the best of our knowledge, this is unpublished data.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)
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