IthaID: 3285

Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs11759328 HGVS Name: NC_000006.12:g.129691228C>T

Context nucleotide sequence:

Also known as:

Comments: SNP associated with increased HbF levels in a Chinese cohort of patients with β-thalassaemia, as well as in Thai cohort with heterozygous and homozygous haemoglobin E (HbE).

External Links


Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Hb F levels [HP:0011904] [OMIM:141749]


Chromosome: 6
Locus: N/A
Locus Location: N/A
Size: 1 bp
Located at: ARHGAP18
Specific Location: Intron 1

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Chinese, Thai
Molecular mechanism: N/A
Inheritance: Quantitative trait
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. He Y, Luo J, Chen Y, Zhou X, Yu S, Jin L, Xiao X, Jia S, Liu Q, ARHGAP18 is a novel gene under positive natural selection that influences HbF levels in β-thalassaemia., Mol. Genet. Genomics , 2017 PubMed
  2. Jomoui W, Tepakhan W, Yamsri S, Srivorakun H, Fucharoen G, Fucharoen S, A novel SNP rs11759328 on Rho GTPase-activating protein 18 gene is associated with the expression of Hb F in hemoglobin E-related disorders., Ann. Hematol., 99(1), 23-29, 2020 PubMed
Created on 2017-12-14 17:35:21, Last reviewed on 2020-07-02 09:12:22 (Show full history)

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