IthaID: 3687

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: IVS II-806 (G>C) HGVS Name: HBB:c.316-45G>C
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:

Also known as:

Comments: Found in twenty Malay and Chinese individuals presented with slightly to moderate decreased levels of MCV and MCH, in the first report.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 71845
Size: 1 bp
Located at: β
Specific Location: Intron 2

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Luo S, Chen X, Zeng D, Tang N, Yuan D, Zhong Q, Mao A, Xu R, Yan T, The value of single-molecule real-time technology in the diagnosis of rare thalassemia variants and analysis of phenotype-genotype correlation., J Hum Genet, 67(4), 183-195, 2022 PubMed


1Li, Youqiong2021-03-09Report of an update.
Created on 2020-10-27 14:16:16, Last reviewed on 2023-02-21 14:54:29 (Show full history)

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