IthaID: 2615
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs4145993 | HGVS Name: | NG_009245.1:g.242152T>C |
Context nucleotide sequence:
TATACTGTGGACCTTATAGGTGGTA [C/T] ATGGAGATACTATGTATCTTGTTTA (Strand: +)
Also known as:
Comments: SNP associated with glomerular filtration rate in the Cooperative Study of Sickle Cell Disease (CSSCD) (n=1140).
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: | Abnormal GFR [HP:0012212] |
Location
| Chromosome: | 4 |
|---|---|
| Locus: | NG_009245.1 |
| Locus Location: | 242152 |
| Size: | 1 bp |
| Located at: | BMPR1B |
| Specific Location: | Intron 2 |
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
- Nolan VG, Ma Q, Cohen HT, Adewoye A, Rybicki AC, Baldwin C, Mahabir RN, Homan EP, Wyszynski DF, Fabry ME, Nagel RL, Farrer LA, Steinberg MH, Estimated glomerular filtration rate in sickle cell anemia is associated with polymorphisms of bone morphogenetic protein receptor 1B., Am. J. Hematol. , 82(3), 179-84, 2007
Created on 2016-05-10 11:02:31,
Last reviewed on (Show full history)
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