IthaID: 3063



Names and Sequences

Functionality: Neutral polymorphism Pathogenicity: Benign / Likely Benign
Common Name: IVS II-55 T>G HGVS Name: HBA2:c.300+55T>G

Context nucleotide sequence:
GAGATGGCGCCTTCCTC [T>G] CAGGGCAGAGGATCACGCG (Strand: +)

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

Allele Phenotype:Neutral
Associated Phenotypes: N/A

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34247
Size: 1 bp
Located at: α2
Specific Location: Intron 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Iranian
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. Harteveld KL, Heister AJ, Giordano PC, Losekoot M, Bernini LF, Rapid detection of point mutations and polymorphisms of the alpha-globin genes by DGGE and SSCA., Hum. Mutat. , 7(2), 114-22, 1996 PubMed
  2. Tamaddoni A, Hadavi V, Nejad NH, Khosh-Ain A, Siami R, Aghai-Meibodi J, Almadani N, Oberkanins C, Law HY, Najmabadi H, alpha-Thalassemia mutation analyses in Mazandaran province, North Iran., Hemoglobin , 33(2), 115-23, 2009 PubMed
  3. Bayat N, Farashi S, Hafezi-Nejad N, Faramarzi N, Ashki M, Vakili S, Imanian H, Khosravi M, Azar-Keivan A, Najmabadi H, Novel mutations responsible for α-thalassemia in Iranian families., Hemoglobin , 37(2), 148-59, 2013 PubMed
Created on 2016-09-06 11:55:05, Last reviewed on 2018-05-16 18:56:21 (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.