IthaID: 4074
Names and Sequences
| Functionality: | Neutral polymorphism | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | -352 A>G | HGVS Name: | HBG1:c.-404A>G |
Context nucleotide sequence:
CACTGGAGCTAGAGACAAGAAGGT [A>G] AAAAACGGCTGACAAAAGAAGTC (Strand: -)
Also known as:
Comments: A potentially neutral variation detected in the heterozygous state in an individual with elevated HbF (Hb F 4.3%) together with -365 G>C [IthaID: 3887] and Aγ(+25 G>A) [ithaID=2945] in HBG1 and -158 C>T [ithaID=2127] in HBG2. Phenotypic information: Hb 128g/L, MCV 99fL, MCH 32.1pg, Hb A 93%, Hb A2 2.7%, Hb F 4.3%.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Allele Phenotype: | Neutral |
|---|---|
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 47407 |
| 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 Han |
| 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To the best of our knowledge, this is unpublished data.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 | Zhuang, Qianmei | 2023-09-25 | First report. |
Created on 2023-11-01 16:42:57,
Last reviewed on 2023-11-01 16:53:19 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2023-11-01 16:42:57 | The IthaGenes Curation Team | Created |
| 2 | 2023-11-01 16:53:19 | The IthaGenes Curation Team | Reviewed. GRCh38 coordinates added |
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IthaGenes was last updated on 2024-04-24 11:43:02