IthaID: 3263



Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs35685045 HGVS Name: NG_012649.1:g.90541C>T

Context nucleotide sequence:
TATTTTACATGCTATAAAAATCACC [C/T] TTTTAAAAGGTACAATTCAGGCCAG (Strand: +)

Also known as:

Comments: SNP associated with HbF in cohorts of Saudi AI haplotype HbS homozygotes. This SNP is in perfect linkage disequilibrium (LD) with rs4527238.

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: 2
Locus: NG_012649.1
Locus Location: 90541
Size: 1 bp
Located at: ANTXR1
Specific Location: Intron 9

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Vathipadiekal V, Farrell JJ, Wang S, Edward HL, Shappell H, Al-Rubaish AM, Al-Muhanna F, Naserullah Z, Alsuliman A, Qutub HO, Simkin I, Farrer LA, Jiang Z, Luo HY, Huang S, Mostoslavsky G, Murphy GJ, Patra PK, Chui DH, Alsultan A, Al-Ali AK, Sebastiani P, Steinberg MH, A candidate transacting modulator of fetal hemoglobin gene expression in the Arab-Indian haplotype of sickle cell anemia., Am. J. Hematol. , 91(11), 1118-1122, 2016 PubMed
  2. Habara AH, Shaikho EM, Steinberg MH, Fetal hemoglobin in sickle cell anemia: The Arab-Indian haplotype and new therapeutic agents., Am. J. Hematol. , 2017 PubMed
Created on 2017-09-26 17:28:23, Last reviewed on 2020-02-19 15:13:05 (Show full history)

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