IthaID: 2095


Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs7776054 HGVS Name: NC_000006.12:g.135097778A>G

Context nucleotide sequence:
TTTGTAATTTGTGTTCTGCTTCTAC [A/G] ATAGACATTTTTCATGTCATTAGAT (Strand: +)

Also known as:

Comments: SNP associated with HbF level variation in the Cooperative Study of Sickle Cell Disease (CSSCD) and in a sickle cell disease cohort from Brazil. SNP associated with HbA2 levels in individuals from the SardiNIA study.

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: Anaemia [HP:0001903]

Location

Chromosome: 6
Locus: NT_025741.15
Locus Location: 39588373
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: African American, Brazilian, Sardinian
Molecular mechanism: N/A
Inheritance: Quantitative trait
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Publications / Origin

  1. Lettre G, Sankaran VG, Bezerra MA, Araújo AS, Uda M, Sanna S, Cao A, Schlessinger D, Costa FF, Hirschhorn JN, Orkin SH, DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease., Proc. Natl. Acad. Sci. U.S.A. , 105(33), 11869-74, 2008
  2. 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
Created on 2013-09-12 11:51:55, Last reviewed on 2019-07-04 16:12:27 (Show full history)

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