IthaID: 605

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Benign / Likely Benign
Common Name: CD 72 CAC>CAA [His>Gln] HGVS Name: HBA2:c.219C>A
Hb Name: Hb Gouda Protein Info: α2 72(EF1) His>Gln

Context nucleotide sequence:

Protein sequence:

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


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


Chromosome: 16
Locus: NG_000006.1
Locus Location: 34111
Size: 1 bp
Located at: α2
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Dutch
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
357Hb Goudaα2D-10Dual Kit Program28.71.43Heterozygote. Clinically normal.[PDF]
358Hb Goudaα2VARIANTβ-thal Short Program30.91.64Heterozygote. Clinically normal.[PDF]
550Hb Goudaα2VARIANT IIβ-thal Short Program31.11.7heterozygote[PDF]
551Hb Goudaα2VARIANT IIDual Kit Program33.31.557heterozygote[PDF]

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Giordano PC, Harteveld CL, Kok PJ, Geenen A, Batelaan D, Amons R, Bemini LF, HB Gouda [alpha 72(EF1)His-->Gln], a new silent alpha chain variant., Hemoglobin , 20(1), 21-9, 1996 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2014-04-10 09:22:05 (Show full history)

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