rs36062788

This is a variant in the HBA1 gene that changes a glycine to an aspartate.

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ClinVar annotation

Likely Benign★☆☆☆
2 submitters5 publications

HEMOGLOBIN KAGOSHIMA; HEMOGLOBIN NISHIK; HEMOGLOBIN NORFOLK; HEMOGLOBIN J (NORFOLK); not provided

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Research that mentions this SNP (1)

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Haemoglobin Norfolk in Nepali Gorkhas
Case reportN=3T. N. Mehrotra et al.(1975)· Humangenetik

Three instances of Haemoglobin Norfolk, a rare hemoglobin variant with a Gly→Asp mutation at position 57 of the alpha chain, were identified in unrelated Nepali Gorkha soldiers during routine hemoglobin screening. All three heterozygous carriers were clinically well with normal hematological parameters. This is the fourth reported observation of this variant since its initial discovery in 1958.

Traits studied:Haemoglobin Norfolk variant
DOIMetascience Observatory

About HBA1

The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. The alpha-2 (HBA2) and alpha-1 (HBA1) coding sequences are identical. These genes differ slightly over the 5' untranslated regions and the introns, but they differ significantly over the 3' untranslated regions. Two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin; alpha chains combine with delta chains to constitute HbA-2, which with HbF (fetal hemoglobin) makes up the remaining 3% of adult hemoglobin. Alpha thalassemias result from deletions of each of the alpha genes as well as deletions of both HBA2 and HBA1; some nondeletion alpha thalassemias have also been reported. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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