IthaID: 3755
Names and Sequences
| Functionality: | Neutral polymorphism | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 69 GCC>GCT [Ala>Ala] | HGVS Name: | HBA1:c.210C>T |
Context nucleotide sequence:
AAGGTGGCCGACGCGCTGACCAACGC [C/T] GTGGCGCACGTGGACGACATGCCCAA (Strand: +)
Also known as:
Comments: Found in a 41-year-old male with normal clinical presentation (Hb 11.1 g/dL, RBC 4.25×1012/L, MCV 83.1 fL, MCH 26.1 pg, MCHC 31.4 g/L). Capillary electrophoresis shown normal levels of HbA 97.5 % and HbA2 2.5 %.
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: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 37906 |
| Size: | 1 bp |
| Located at: | α1 |
| Specific Location: | Exon 2 |
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
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To the best of our knowledge, this is unpublished data.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 | 2021-03-22 | First report. |
Created on 2021-03-23 15:38:26,
Last reviewed on 2021-03-23 15:42:05 (Show full history)
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