IthaID: 2114
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | IVS XII-9251 G>A | HGVS Name: | NG_007563.1:g.115072G>A |
Context nucleotide sequence:
TACCAATGTATTGTTCTGTTTAAAAT [A/G] TGGAAACCTGAGGAAATGAACAAAG (Strand: +)
Also known as: rs12559632
Comments: Moderately strong association with F-cell levels
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Allele Phenotype (Cis): | N/A |
|---|---|
| Allele Phenotype (Trans): | Increased expression for Aγ or Gγ |
| Associated Phenotypes: | F-cell numbers |
Location
| Chromosome: | X |
|---|---|
| Locus: | NG_007563.1 |
| Locus Location: | 115072 |
| Size: | 1 bp |
| Located at: | PHEX |
| Specific Location: | N/A |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Africans |
| Molecular mechanism: | N/A |
| Inheritance: | Quantitative trait |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Bhatnagar P, Purvis S, Barron-Casella E, DeBaun MR, Casella JF, Arking DE, Keefer JR, Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients., J. Hum. Genet. , 56(4), 316-23, 2011
Created on 2013-09-18 16:37:53,
Last reviewed on 2019-07-03 11:05:03 (Show full history)
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