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
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
Created on 2016-06-06 15:29:22,
Last reviewed on 2016-06-06 17:38:51 (Show full history)
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