IthaID: 4026

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 46 GGG>CGG [Gly>Arg], IVS II-456 A>G HGVS Name: HBD:c.[139G>C;316-443A>G]
Hb Name: Hb A2-Malay Protein Info: N/A

Context nucleotide sequence:

Also known as:

Comments: CD 46 G>C nucleotide substitution is found together with IVS II-456 A>G in six Malay individuals. One individual also carried Asian-Indian Inv/Del Gγ(Aγδβ)0 [IthaID: 1519]. It is hypothesized that CD 46 G>C and IVS II-456 A>G occur on the same allele since this individual carries a deletion on the other allele.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 63449 or 64081
Size: 1 bp or 1 bp
Located at: δ
Specific Location: Exon 2

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

To the best of our knowledge, this is unpublished data. Please use with caution!


1Syahzuwan, Hassan2023-05-25First report.
Created on 2023-05-26 10:54:26, Last reviewed on 2023-05-26 11:03:46 (Show full history)

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