IthaID: 3260
Names and Sequences
Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
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Common Name: | rs7119428 | HGVS Name: | NG_000007.3:g.16766T>G |
Context nucleotide sequence:
GCGGGGGTGGGGCACTGACCCCGAC [A/C] GGGGCCTGGCCAGAACTGCTCATGC (Strand: +)
Also known as:
Comments: SNP is located in Dnase I HS-2 within a putative ZBTB7A-binding site. ZBTB7A (leukemia/lymphoma related factor; LRF) is an important repressor of γ-globin gene transcription. SNP was reported to influence HbF levels in patients with African origin haplotypes of sickle cell anaemia (study samples were obtained from the Cooperative Study of Sickle Cell Disease (CSSCD)).
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
Allele Phenotype (Cis): | N/A |
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Allele Phenotype (Trans): | N/A |
Associated Phenotypes: | Hb F levels [HP:0011904] [OMIM:141749] |
Location
Chromosome: | 11 |
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Locus: | NG_000007.3 |
Locus Location: | 16766 |
Size: | 1 bp |
Located at: | βLCR |
Specific Location: | N/A |
Other details
Type of Mutation: | Point-Mutation(Substitution) |
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Effect on Gene/Protein Function: | N/A |
Ethnic Origin: | African American |
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
- Shaikho EM, Habara AH, Alsultan A, Al-Rubaish AM, Al-Muhanna F, Naserullah Z, Alsuliman A, Qutub HO, Patra PK, Sebastiani P, Baltrusaitis K, Farrell JJ, Jiang Z, Luo HY, Chui DH, Al-Ali AK, Steinberg MH, Variants of ZBTB7A (LRF) and its β-globin gene cluster binding motifs in sickle cell anemia., Blood Cells Mol. Dis. , 59(0), 49-51, 2016 PubMed
- Habara AH, Shaikho EM, Steinberg MH, Fetal hemoglobin in sickle cell anemia: The Arab-Indian haplotype and new therapeutic agents., Am. J. Hematol. , 2017 PubMed
Created on 2017-09-22 19:21:24,
Last reviewed on (Show full history)
A/A | Date | Curator(s) | Comments |
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1 | 2017-09-22 19:21:24 | The IthaGenes Curation Team | Created |
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IthaGenes was last updated on 2024-09-28 12:00:32