IthaID: 851

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 15 TGG>GGG HGVS Name: HBB:c.46T>G
Hb Name: Hb Randwick Protein Info: β 15(A12) Trp>Gly

Context nucleotide sequence:

Protein sequence:

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-chain variant
Allele Phenotype:N/A
Stability: Unstable
Oxygen Affinity: N/A
Associated Phenotypes: N/A


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70640
Size: 1 bp
Located at: β
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Italian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No


Disclaimer: The HPLC images are provided as an information resource only. Bio-Rad Laboratories, Inc and the ITHANET Portal disclaim responsibility and have no liability if this information is used for diagnostic or treatment purposes. D-10™ and VARIANT™ are registered trademarks of Bio-Rad Laboratories, Inc. and used with permission. Redistribution and use of the above material is allowed only with permission by Bio-Rad Laboratories, Inc. To access HPLC images and reports for different variants, use the IthaChrom tool.
ID Hb Variant Gene Instrument Method Area (%) Ret Time (min) Comments
493Hb RandwickβD-10Dual Kit Program52.41.82Double heterozygote for Hb Randwick and beta-thalassaemia. [PDF]
452Hb RandwickβD-10Dual Kit Program81.41.69Elutes with HbA. Mildly unstable. [PDF]
494Hb RandwickβVARIANTβ-thal Short Program67.72.64Double heterozygote for Hb Randwick and beta-thalassaemia. [PDF]
453Hb RandwickβVARIANTβ-thal Short Program82.62.38Elutes with HbA. Mildly unstable. [PDF]
495Hb RandwickβVARIANT IIβ-thal Short Program66.82.66Double heterozygote for Hb Randwick and beta-thalassaemia. [PDF]
455Hb RandwickβVARIANT IIDual Kit Program2.92.995Elutes with HbA2. Mildly unstable. [PDF]
454Hb RandwickβVARIANT IIβ-thal Short Program81.82.41Elutes with HbA. Mildly unstable. [PDF]
235Hb RandwickβVARIANT IIDual Kit Program61.22.98Double heterozygote (Hb Randwick with Beta thalassemia). It elutes in the position of HbA0 in all the systems except in the VARIANT II Dual Beta Thal program where it co-elutes with HbA2. Its association with a beta thal is extremely rare and explains both the anaemia and an increased HbF and HbA2 and if it is a beta 0 thal all the fraction eluting at the position of HbA0 is the variant.[PDF]

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Gilbert AT, Fleming PJ, Sumner DR, Hughes WG, Ip F, Kwan YL, Holland RA, Hemoglobin Randwick or beta 15 (A12)Trp----Gly: a new unstable beta-chain hemoglobin variant., Hemoglobin, 12(2), 149-61, 1988 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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