IthaID: 2060
Names and Sequences
| Functionality: | Neutral polymorphism | Pathogenicity: | Benign / Likely Benign |
|---|---|---|---|
| Common Name: | 3'UTR +4 C>T | HGVS Name: | NG_000007.3:g.72022C>T |
Context nucleotide sequence:
CCTGGCCCACAAGTATCACTAAGCT [C/T] GCTTTCTTGCTGTCCAATTTCTAT (Strand: -)
Also known as: HBB:c.*4C>T, +1478 C>T
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Allele Phenotype: | Neutral |
|---|---|
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 72022 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | 3'UTR |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Kurdish, Vietnamese |
| Molecular mechanism: | N/A |
| Inheritance: | Quantitative trait |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Xinh PT, Chuong HQ, Ha NTT, Tram HDB, Van Dong C, Thanh LVH, Hoa NTH, Nghia H, Binh NT, Dung PC, Vu HA, Spectrum of HBB gene mutations among 696 β-thalassemia patients and carriers in Southern Vietnam., Mol Biol Rep, 49(4), 2601-2606, 2022
Created on 2013-06-27 14:21:33,
Last reviewed on 2022-05-13 13:04:53 (Show full history)
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