IthaID: 3185


Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs67385638 HGVS Name: NG_000007.3:g.28476G>C

Context nucleotide sequence:
TTTCTATTTCCTTGAAATGGACTTT [C/G] ATCTACCAAAAGCCAAATTTCATTC (Strand: +)

Also known as:

Comments: SNP associated with HbF levels in individuals from the SardiNIA study. The C allele associated with HbF levels in Kuwaiti patients with sickle cell disease, specifically in patients with up to 30% HbF but not beyond.

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: 11
Locus: NG_000007.3
Locus Location: 28476
Size: 1 bp
Located at: ε
Specific Location: Intron 2

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Danjou F, Zoledziewska M, Sidore C, Steri M, Busonero F, Maschio A, Mulas A, Perseu L, Barella S, Porcu E, Pistis G, Pitzalis M, Pala M, Menzel S, Metrustry S, Spector TD, Leoni L, Angius A, Uda M, Moi P, Thein SL, Galanello R, Abecasis GR, Schlessinger D, Sanna S, Cucca F, Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels., Nat. Genet. , 47(11), 1264-71, 2015
  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
Created on 2017-02-20 15:21:31, Last reviewed on 2021-12-21 12:16:33 (Show full history)

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