IthaID: 3732
Names and Sequences
| Functionality: | Neutral polymorphism | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 140 TAC>TAT [Tyr>Tyr] | HGVS Name: | HBA2:c.423C>T |
Context nucleotide sequence:
TGAGCACCGTGCTGACCTCCAAATA [C/T] CGTTAAGCTGGAGCCTCGGTAGCCG (Strand: +)
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Allele Phenotype: | Neutral |
|---|---|
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34457 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | N/A |
| 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To the best of our knowledge, this is unpublished data.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 | Mohd Yasin, Norafiza | 2020-11-24 | First report. |
Created on 2021-02-12 12:43:04,
Last reviewed on (Show full history)
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