IthaID: 267


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: Terminal CD +6 C>G [CAP +1480] HGVS Name: HBB:c.*6C>G
Hb Name: N/A Protein Info: β nt 1480 C>G

Context nucleotide sequence:
TGGCCCACAAGTATCACTAAGCTCG [C/G] TTTCTTGCTGTCCAATTTCTATTAA (Strand: -)

Also known as:

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β+
β++ (silent)
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 72024
Size: 1 bp
Located at: β
Specific Location: 3'UTR

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Other 3'UTR site (mRNA Processing)
Ethnic Origin: Greek
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

Publications / Origin

  1. Jankovic L, Dimovski AJ, Kollia P, Karageorga M, Loukopoulos D, Huisman TH, A C----G mutation at nt position 6 3' to the terminating codon may be the cause of a silent beta-thalassemia., International journal of hematology, 54(4), 289-93, 1991
  2. Maragoudaki E, Vrettou C, Kanavakis E, Traeger-Synodinos J, Metaxotou-Mavrommati A, Kattamis C, Molecular, haematological and clinical studies of a silent beta-gene C-->G mutation at 6 bp 3' to the termination codon (+1480 C-->G) in twelve Greek families., British journal of haematology, 103(1), 45-51, 1998
Created on 2010-06-16 16:13:15, Last reviewed on 2014-10-09 16:23:22 (Show full history)

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