IthaID: 2808


Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs4320977 HGVS Name: NG_000007.3:g.60684T>C

Context nucleotide sequence:
TATGGATTGCATTGAGAGGATTTGT [A/G] TAACAGAATAAGGTCTTTTTTTCTT (Strand: +)

Also known as:

Comments: SNP associated with HbF levels and disease severity in patients from Thailand with HbE/β0-thalassemia [PMID: 20353593]. It associated with elevated HbF in African Americans with sickle cell disease, recruited from the Cooperative Study of Sickle Cell Disease (CSSCD), the Comprehensive Sickle Cell Centers Collaborative Data (CDATA) study, and the Thomas Jefferson University (n=244).

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]
Severity [HP:0012824]

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 60684
Size: 1 bp
Located at: HBD-HBBP1
Specific Location: N/A

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Sherva R, Sripichai O, Abel K, Ma Q, Whitacre J, Angkachatchai V, Makarasara W, Winichagoon P, Svasti S, Fucharoen S, Braun A, Farrer LA, Genetic modifiers of Hb E/beta0 thalassemia identified by a two-stage genome-wide association study., BMC Med. Genet. , 11(0), 51, 2010
  2. Liu L, Pertsemlidis A, Ding LH, Story MD, Steinberg MH, Sebastiani P, Hoppe C, Ballas SK, Pace BS, A case-control genome-wide association study identifies genetic modifiers of fetal hemoglobin in sickle cell disease., Exp. Biol. Med. (Maywood) , 2016
Created on 2016-05-17 09:35:13, Last reviewed on 2021-07-08 15:33:54 (Show full history)

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