IthaID: 3706
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs1160065459 | HGVS Name: | NC_000019.10:g.10148923G>A |
Context nucleotide sequence:
CTGTTGGCTGGGTTTTTGGAGGG [G>A] ACTCGAATCTCGCGTAGTCTTGA (Strand: +)
Also known as:
Comments: Associated with high HbF production by epigenetically de-repressing γ-globin expression and amelioration of disease severity in a Chinese cohort of β-thalassaemia.
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] |
Location
| Chromosome: | 19 |
|---|---|
| Locus: | NG_028016.3 |
| Locus Location: | 87364 |
| Size: | 1 bp |
| Located at: | DNMT1 |
| Specific Location: | Exon 27 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Quantitative trait |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Gong Y, Zhang X, Zhang Q, Zhang Y, Ye Y, Yu W, Shao C, Yan T, Huang J, Zhong J, Wang L, Li Y, Wang L, Xu X, A natural DNMT1 mutation elevates the fetal hemoglobin via epigenetic de-repression of γ-globin gene in β-thalassemia., Blood, 2020
Created on 2020-12-01 13:20:29,
Last reviewed on 2020-12-01 13:20:57 (Show full history)
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