IthaID: 843

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 11 GTT>ATT HGVS Name: HBB:c.34G>A
Hb Name: Hb Hamilton Protein Info: β 11(A8) Val>Ile

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: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70628
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: Austrian | Chinese | Sardinian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes


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
118Hb HamiltonβVARIANT IIβ-thal Short Program87.42.55Neutral variant, clinically normal. Elutes together with HbA on CE-HPLC. Abnormal chain could be observed by RP-HPLC. Diagnosis requires DNA studies.[PDF]
119Hb HamiltonβVARIANT IIDual Kit Program861.789Neutral variant, clinically normal. Elutes together with HbA on CE-HPLC. Abnormal chain could be observed by RP-HPLC. Diagnosis requires DNA studies.[PDF]

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Wong SC, Ali MA, Lam H, Webber BB, Wilson JB, Huisman TH, Hemoglobin Hamilton or alpha 2 beta 2 11(A8)Val leads to Ile: a silent beta-chain variant detected by Triton X-100 acid-urea polyacrylamide gel electrophoresis., American journal of hematology, 16(1), 47-52, 1984 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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