IthaID: 114


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: IVS I-116 (T>G) HGVS Name: HBB:c.93-15T>G
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
CTGACTCTCTCTGCCTATTGGTCTA [A/G/T] TTTCCCACCCTTAGGCTGCTGGTGG (Strand: -)

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β0
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70802
Size: 1 bp
Located at: β
Specific Location: Intron 1

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Cryptic splice site (mRNA Processing)
Ethnic Origin: Mediterranean
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Frequencies

Publications / Origin

  1. Metherall JE, Collins FS, Pan J, Weissman SM, Forget BG, Beta zero thalassemia caused by a base substitution that creates an alternative splice acceptor site in an intron., The EMBO journal, 5(10), 2551-7, 1986
Created on 2010-06-16 16:13:14, Last reviewed on 2013-10-15 17:28:32 (Show full history)

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