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:

Also known as:

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

External Links


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


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

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
  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
  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
Created on 2018-01-30 18:36:41, Last reviewed on 2020-10-15 12:09:12 (Show full history)

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