IthaID: 2104



Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs35959442 HGVS Name: NC_000006.12:g.135103041C>G

Context nucleotide sequence:
GGCCCCCCCTCATCACTTCCTGAAG [C/G] CTGCTGTAGACTGCTATAAGAGCGG (Strand: +)

Also known as:

Comments: C>G variation associated with HbF levels under an additive model in individuals from China with β-thalassemia [PMID: 22023465]. The G allele associated with HbF in the high-HbF (>30%) subgroup of Kuwaiti patients with sickle cell disease [PMID: 34204365].

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: 6
Locus: NT_025741.15
Locus Location: N/A
Size: 1 bp
Located at: HBS1L-MYB
Specific Location: N/A

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. He Y, Lin W, Luo J, Influences of genetic variation on fetal hemoglobin., Pediatr Hematol Oncol , 28(8), 708-17, 2011 PubMed
  2. Akbulut-Jeradi N, Fernandez MJ, Al Khaldi R, Sukumaran J, Adekile A, Unique Polymorphisms at , and Loci Associated with HbF in Kuwaiti Patients with Sickle Cell Disease., J Pers Med, 11(6), , 2021 PubMed
Created on 2013-09-16 15:06:02, Last reviewed on 2021-09-23 17:15:52 (Show full history)

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