IthaID: 2690
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs6997859 | HGVS Name: | NG_011993.1:g.190657A>C |
Context nucleotide sequence:
TATCTATCCAGTAGGTTCTTATAAC [A/G/T] GATTAAACTTTGAAGGGGGGTGGGG (Strand: +)
Also known as:
Comments: SNP associated with HbF levels in the older subjects (≥ 24 years; n=538) of 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 |
|---|---|
| Allele Phenotype (Trans): | N/A |
| Associated Phenotypes: | Hb F levels [HP:0011904] [OMIM:141749] |
Location
| Chromosome: | 8 |
|---|---|
| Locus: | NG_011993.1 |
| Locus Location: | 190657 |
| Size: | 1 bp |
| Located at: | TOX |
| Specific Location: | Intron 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| 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
Publications / Origin
- Sebastiani P, Wang L, Nolan VG, Melista E, Ma Q, Baldwin CT, Steinberg MH, Fetal hemoglobin in sickle cell anemia: Bayesian modeling of genetic associations., Am. J. Hematol. , 83(3), 189-95, 2008
Created on 2016-05-12 10:18:34,
Last reviewed on 2016-05-12 10:19:54 (Show full history)
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