IthaID: 3887
Names and Sequences
| Functionality: | Neutral polymorphism | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | -365 G>C | HGVS Name: | HBG1:c.-417G>C |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
CTACAGGCCTCACTGGAGCTA [G/C] AGACAAGAAGGTAAAAAACGG (Strand: -)
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%.
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
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To the best of our knowledge, this is unpublished data.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)
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