IthaID: 3698
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs16998911 | HGVS Name: | NG_016419.1:g.49280T>C |
Context nucleotide sequence:
CCCAAGGACCATGTAGAATTTGTAA [T>C] GGACTTATCACCTACACAAATCAGT (Strand: +)
Also known as:
Comments: Significant association with high F cell numbers (in the range of 13 to 30%) and HbF levels (>4%) in males with sickle cell disease from Tanzania. The association was not replicated in female patients. rs16998911 is an X-linked determinant of Fcells% also explaining gender differences in F-cell distribution in SCD patients.
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] F-cell numbers |
Location
| Chromosome: | X |
|---|---|
| Locus: | NG_016419.1 |
| Locus Location: | 49280 |
| Size: | 1 bp |
| Located at: | FRMPD4 |
| Specific Location: | Intron 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Tanzanian |
| Molecular mechanism: | N/A |
| Inheritance: | Quantitative trait |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Urio F, Nkya S, Rooks H, Mgaya JA, Masamu U, Zozimus Sangeda R, Mmbando BP, Brumat M, Mselle T, Menzel S, Luzzatto L, Makani J, F cell numbers are associated with an X-linked genetic polymorphism and correlate with haematological parameters in patients with sickle cell disease., Br J Haematol, 2020
Created on 2020-11-12 13:26:57,
Last reviewed on 2020-11-12 13:27:32 (Show full history)
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