IthaID: 2069



Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs10189857 HGVS Name: NG_011968.1:g.72399T>C

Context nucleotide sequence:
CCCCTTGTTCTATCAGCAGGTCAAG [A/G] GTAGAGAACTGTGACAAGCTGTTCT (Strand: +)

Also known as:

Comments: Sardinia; effect on the severity of β-thalassaemia phenotype.

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: N/A

Location

Chromosome: 2
Locus: NG_011968.1
Locus Location: 72399
Size: 1 bp
Located at: BCL11A
Specific Location: Intron 2

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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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. Danjou F, Anni F, Perseu L, Satta S, Dessì C, Lai ME, Fortina P, Devoto M, Galanello R, Genetic modifiers of β-thalassemia and clinical severity as assessed by age at first transfusion., Haematologica , 97(7), 989-93, 2012 PubMed
Created on 2013-06-28 12:05:32, Last reviewed on 2019-07-03 13:33:03 (Show full history)

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