IthaID: 3257
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs231841 | HGVS Name: | NG_008935.1:g.262384G>T |
Context nucleotide sequence:
GCCTGTGTTCGACATCCTTGGAGAA [A/C] ACAACAACAAAGGCTGGGAGACAGC (Strand: -)
Also known as:
Comments: SNP (C allele) associated with elevated Hb A2 levels in Chinese β-thalassaemia carriers.
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: | Anaemia [HP:0001903] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_008935.1 |
| Locus Location: | 262384 |
| Size: | 1 bp |
| Located at: | KCNQ1 |
| Specific Location: | Intron 11 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Quantitative trait |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Yu S, Chen Y, Lai K, Dewan RK, He Y, A Novel Variant with Positive Natural Selection Influenced Hb A2 Levels in Chinese Individuals with β-Thalassemia., Hemoglobin , 2017
Created on 2017-09-11 19:11:01,
Last reviewed on (Show full history)
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