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This variant is reported as to being seen frequently in individuals with recessive Hereditary pyropoikilocytosis.
Insufficiently evaluated pathogenic
(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)
Summary of published research, and additional commentary
Added in this revision:
Maillet P, Alloisio N, Morlé L, Delaunay J. Spectrin mutations in hereditary
elliptocytosis and hereditary spherocytosis. Hum Mutat. 1996;8(2):97-107. PubMed
Costa DB, Lozovatsky L, Gallagher PG, Forget BG. A novel splicing mutation of
the alpha-spectrin gene in the original hereditary pyropoikilocytosis kindred.
Blood. 2005 Dec 15;106(13):4367-9. Epub 2005 Sep 8. PubMed PMID: 16150946; PubMed
Central PMCID: PMC1895230.
hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het T @ chr1:158624528