IthaID: 3172



Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs4527238 HGVS Name: NG_012649.1:g.84516T>C

Context nucleotide sequence:
TGCCACAGAGGTAGATCGGTGAGAA [C/T] CTCTTTAAGAATTCAGAAATCTTAC (Strand: +)

Also known as:

Comments: SNP associated with HbF levels in Saudi patients with the Arab-Indian (AI) haplotype of sickle cell anaemia.

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: 84516
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
Created on 2017-02-06 14:43:45, Last reviewed on 2017-09-26 17:07:35 (Show full history)

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