IthaID: 2176


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CAP +39 C>T HGVS Name: HBB:c.-12C>T
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
ACAACTGTGTTCACTAGCAACCT [C/T] AAACAGACACCATGGTGCATCT (Strand: -)

Also known as:

Comments: Reported during an epidemiological survey in a student cohort, Guangxi Zhuang Autonomous Region.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70583
Size: 1 bp
Located at: β
Specific Location: 5'UTR

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: 5'UTR (Transcription)
Ethnic Origin: Chinese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Publications / Origin

  1. Chen W, Zhang X, Shang X, Cai R, Li L, Zhou T, Sun M, Xiong F, Xu X, The molecular basis of beta-thalassemia intermedia in southern China: genotypic heterogeneity and phenotypic diversity., BMC Med. Genet. , 11(1), 31, 2010
  2. Xiong F, Sun M, Zhang X, Cai R, Zhou Y, Lou J, Zeng L, Sun Q, Xiao Q, Shang X, Wei X, Zhang T, Chen P, Xu X, Molecular epidemiological survey of haemoglobinopathies in the Guangxi Zhuang Autonomous Region of southern China., Clin. Genet., 78(2), 139-48, 2010
Created on 2013-09-30 15:03:21, Last reviewed on 2022-07-15 10:03:17 (Show full history)

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