IthaID: 3172
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs4527238 | HGVS Name: | NG_012649.1:g.84516T>C |
Context nucleotide sequence:
TGCCACAGAGGTAGATCGGTGAGAA [C/T] CTCTTTAAGAATTCAGAAATCTTAC (Strand: +)
Also known as:
Comments: SNP associated with HbF levels in Saudi patients with the Arab-Indian (AI) haplotype of sickle cell anaemia.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Allele Phenotype (Cis): | N/A |
|---|---|
| Allele Phenotype (Trans): | N/A |
| Associated Phenotypes: | Hb F levels [HP:0011904] [OMIM:141749] |
Location
| Chromosome: | 2 |
|---|---|
| Locus: | NG_012649.1 |
| Locus Location: | 84516 |
| Size: | 1 bp |
| Located at: | ANTXR1 |
| Specific Location: | Intron 9 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Saudi |
| Molecular mechanism: | N/A |
| Inheritance: | Quantitative trait |
| 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
- Vathipadiekal V, Farrell JJ, Wang S, Edward HL, Shappell H, Al-Rubaish AM, Al-Muhanna F, Naserullah Z, Alsuliman A, Qutub HO, Simkin I, Farrer LA, Jiang Z, Luo HY, Huang S, Mostoslavsky G, Murphy GJ, Patra PK, Chui DH, Alsultan A, Al-Ali AK, Sebastiani P, Steinberg MH, A candidate transacting modulator of fetal hemoglobin gene expression in the Arab-Indian haplotype of sickle cell anemia., Am. J. Hematol. , 91(11), 1118-1122, 2016 PubMed
Created on 2017-02-06 14:43:45,
Last reviewed on 2017-09-26 17:07:35 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2017-02-06 14:43:45 | The IthaGenes Curation Team | Created |
| 2 | 2017-09-26 17:07:35 | The IthaGenes Curation Team | Reviewed. Mutation comment modified. |
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IthaGenes was last updated on 2024-11-20 13:24:07