IthaID: 2792
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs4910742 | HGVS Name: | NG_000007.3:g.12337C>T |
Context nucleotide sequence:
TCAACAAATAGTAGTAGATTTTATC [A/G] TCCATTAATCCTTCCCTCTCCTCTC (Strand: +)
Also known as:
Comments: SNP strongly associated with elevated HbF and other haematological indices (e.g., HbA2 and Hb levels, red blood cell counts, MCV, MCH and MCHC) in the general (non-anaemic) population of Sardinia (n=4305 in the initial screen and n=521 in the replication study).
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] Abnormal red blood cell count [HP:0020058] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 12337 |
| Size: | 1 bp |
| Located at: | βLCR |
| Specific Location: | N/A 0 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Sardinian |
| Molecular mechanism: | N/A |
| Inheritance: | Quantitative trait |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Uda M, Galanello R, Sanna S, Lettre G, Sankaran VG, Chen W, Usala G, Busonero F, Maschio A, Albai G, Piras MG, Sestu N, Lai S, Dei M, Mulas A, Crisponi L, Naitza S, Asunis I, Deiana M, Nagaraja R, Perseu L, Satta S, Cipollina MD, Sollaino C, Moi P, Hirschhorn JN, Orkin SH, Abecasis GR, Schlessinger D, Cao A, Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia., Proc. Natl. Acad. Sci. U.S.A. , 105(5), 1620-5, 2008
Created on 2016-05-16 17:24:13,
Last reviewed on 2019-12-23 14:38:13 (Show full history)
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