IthaID: 2924
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs4786504 | HGVS Name: | NC_000016.10:g.4487692T>C |
Context nucleotide sequence:
gctggcgcctgtagtcccagctcct [C/T] gggaggctgaggtgggagaatggcg (Strand: +)
Also known as:
Comments: SNP associated with haemoglobin (Hb) levels in Tibetans living at high altitudes. The association was significant only in males, not in females.
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] |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Tibetan, Han Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Quantitative trait |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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Publications / Origin
- Yang D, Peng Y, Ouzhuluobu , Bianbazhuoma , Cui C, Bianba , Wang L, Xiang K, He Y, Zhang H, Zhang X, Liu J, Shi H, Pan Y, Duojizhuoma , Dejiquzong , Cirenyangji , Baimakangzhuo , Gonggalanzi , Liu S, Gengdeng , Wu T, Chen H, Qi X, Su B, HMOX2 Functions as a Modifier Gene for High-Altitude Adaptation in Tibetans., Hum. Mutat. , 37(2), 216-23, 2016 PubMed
Created on 2016-06-06 15:29:22,
Last reviewed on 2016-06-06 17:38:51 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2016-06-06 15:29:22 | The IthaGenes Curation Team | Created |
| 2 | 2016-06-06 17:38:51 | The IthaGenes Curation Team | Reviewed. |
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IthaGenes was last updated on 2024-11-20 13:24:07