rs35020585

This is a synonymous variant in the HBB gene — it does not change the protein's amino acid sequence.

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ClinVar annotation

Likely Benign★☆☆☆
2 submitters3 publications

HEMOGLOBIN ANDREW-MINNEAPOLIS; not provided; Erythrocytosis, familial, 6

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Research that mentions this SNP (1)

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Rapid molecular characterization of mutations leading to unstable hemoglobin β-chain variants
Case reportGirodon E. et al.(1992)· Annals of Hematology

This study describes the application of denaturing gradient gel electrophoresis (DGGE) for rapid molecular characterization of unstable β-globin chain variants causing hemolytic disease. The authors identified three unstable hemoglobin mutations: Hb Perth (β32 Leu-Pro), Hb Terre-Haute (β106 Leu-Arg), and a new variant Hb Dieppe (β127 Gln-Arg/CAG-CGG). The DGGE method combined with PCR amplification and direct sequencing enabled detection of point mutations within days, avoiding costly protein sequencing.

Traits studied:Beta-thalassemiaHemolytic anemiaUnstable hemoglobin
DOIMetascience Observatory

About HBB

The alpha (HBA) and beta (HBB) loci determine the structure of the 2 types of polypeptide chains in adult hemoglobin, Hb A. The normal adult hemoglobin tetramer consists of two alpha chains and two beta chains. Mutant beta globin causes sickle cell anemia. Absence of beta chain causes beta-zero-thalassemia. Reduced amounts of detectable beta globin causes beta-plus-thalassemia. The order of the genes in the beta-globin cluster is 5'-epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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