IthaID: 3411



Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs2855121 HGVS Name: NG_000007.3:g.41555G>A

Context nucleotide sequence:
TATAATTCCTATCAACCTGATA [G>A] GTTAGGGGAAGGTAGAGCTCTCC (Strand: -)

Also known as:

Comments: HBG2 upstream variant. rs2855121 (A) associated with elevated HbF levels in African Americans with sickle cell anaemia (CSSCD cohort). Associated with disease severity in Thai individuals with β0-thalassaemia/HbE.

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: 41555
Size: 1 bp
Located at:
Specific Location: N/A

Other details

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

In silico pathogenicity prediction

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Publications / Origin

  1. Galarneau G, Palmer CD, Sankaran VG, Orkin SH, Hirschhorn JN, Lettre G, Fine-mapping at three loci known to affect fetal hemoglobin levels explains additional genetic variation., Nat. Genet. , 42(12), 1049-51, 2010 PubMed
  2. 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 PubMed
Created on 2019-05-23 13:48:58, Last reviewed on 2021-07-12 14:53:59 (Show full history)

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