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

Sequence Viewer

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Publications / Origin

  1. 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 PubMed
Created on 2020-12-01 13:20:29, Last reviewed on 2020-12-01 13:20:57 (Show full history)

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