IthaID: 3301



Names and Sequences

Functionality: Neutral polymorphism Pathogenicity: Benign / Likely Benign
Common Name: +861 G>A HGVS Name: HBA2:c.*136A>G

Context nucleotide sequence:
GCCTGTGTGTGCCTGGGTTCTCTCT [G/A] TCCCGGAATGTGCCAACAATGGAGG (Strand: +)

Also known as:

Comments: The location of this substitution is 48 nucleotides relative to poly A signal (+861 G>A).

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34599
Size: 1 bp
Located at: α2
Specific Location: 3'UTR

Phenotype

Allele Phenotype:Neutral
Associated Phenotypes: N/A

Other details

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

Sequence Viewer

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Publications / Origin

  1. Lacerra G, Fiorito M, Musollino G, Di Noce F, Esposito M, Nigro V, Gaudiano C, Carestia C, Sequence variations of the alpha-globin genes: scanning of high CG content genes with DHPLC and DG-DGGE., Hum. Mutat. , 24(4), 338-49, 2004 PubMed
  2. Lacerra G, Musollino G, Di Noce F, Prezioso R, Carestia C, Genotyping for known Mediterranean alpha-thalassemia point mutations using a multiplex amplification refractory mutation system., Haematologica , 92(2), 254-5, 2007 PubMed
  3. Cardiero G, Musollino G, Friscia MG, Testa R, Virruso L, Di Girgenti C, Caldora M, Colella Bisogno R, Gaudiano C, Manco G, Lacerra G, Effect of Mutations on mRNA and Globin Stability: The Cases of Hb Bernalda/Groene Hart and Hb Southern Italy., Genes (Basel), 11(8), , 2020 PubMed
Created on 2018-01-30 18:36:41, Last reviewed on 2020-10-15 12:09:12 (Show full history)

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