IthaID: 3887
Names and Sequences
| Functionality: | Neutral polymorphism | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | -365 G>C | HGVS Name: | HBG1:c.-417G>C |
Context nucleotide sequence:
CTACAGGCCTCACTGGAGCTA [G/C] AGACAAGAAGGTAAAAAACGG (Strand: -)
Also known as:
Comments: Found in a 63-year-old female in association with Hb G-San José [IthaID:830] and Gγ -158 C>T [IthaID:2127], presented with Hb 11.1 g/dL, RBC 4.26×1012/L, MCV 82.5 fL and MCH 26.1 pg. Capillary electrophoresis shown HbA 73%, HbA2 3.4% and HbF+Hb G-San José 23.6%.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Allele Phenotype: | Neutral |
|---|---|
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 47394 |
| Size: | 1 bp |
| Located at: | Aγ |
| Specific Location: | Promoter |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Chinese |
| 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
To the best of our knowledge, this is unpublished data. Please use with caution!
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Li, Youqiong | 2022-01-05 | First report. |
Created on 2022-01-20 11:23:39,
Last reviewed on (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2022-01-20 11:23:39 | The IthaGenes Curation Team | Created |
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IthaGenes was last updated on 2024-11-20 13:24:07