Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.C105Y
Back to variants list

HBA1

NM_000558.5:p.C105Y

Associated Papers

Compound Heterozygous Hb Milledgeville With -α4.2 Thalassemia-A Rare and First Reported Cause of Primary Erythrocytosis in an Indian Family.

Chauhan R et al.

International Journal of Laboratory Hematology, 2025

Hb Iberia [α104(G11)Cys → Arg,TGC>CGC (α2) (HBA2:c.313T>C)], a new α-thalassemic hemoglobin variant found in the Iberian Peninsula: report of six cases.

Bento C et al.

Hemoglobin, 2012

Alpha-thalassaemia.

Harteveld CL et al.

Orphanet Journal of Rare Diseases, 2010

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."