IthaID: 1346



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: Poly A +69 (G>A) HGVS Name: HBD:c.*199G>A
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
GAAGGTTCCTGAGGCTCTACAGATA [A/G] GGAGCACTTGTTTATTTTACAAAGA (Strand: -)

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 64851
Size: 1 bp
Located at: δ
Specific Location: Poly(A) 0

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: δ-thalassaemia
Allele Phenotype:Unclear
Associated Phenotypes: N/A

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Sardinian
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Moi P, Loudianos G, Lavinha J, Murru S, Cossu P, Casu R, Oggiano L, Longinotti M, Cao A, Pirastu M, Delta-thalassemia due to a mutation in an erythroid-specific binding protein sequence 3' to the delta-globin gene., Blood, 79(2), 512-6, 1992 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:28:32 (Show full history)

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