IthaID: 3189


Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs7936823 HGVS Name: NG_000007.3:g.68678C>T

Context nucleotide sequence:
TAAAATATTTTAAATGTTAAAACAT [G>A] CAGATTTGACTTGGCTGTTAGATTT (Strand: +)

Also known as:

Comments: Associated with HbA2 levels in individuals from the SardiNIA study, as well as with disease severity and levels of haemoglobin F in Thai patients with HbE/β0-thalassemia.

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]
Anaemia [HP:0001903]
Severity [HP:0012824]

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 68678
Size: 1 bp
Located at: β
Specific Location: N/A

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Sardinian, Thai
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. 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 2017-02-20 16:48:53, Last reviewed on 2021-07-08 15:03:26 (Show full history)

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