rs121918647

This is a variant in the SPTB gene that changes a alanine to an glycine.

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ClinVar annotation

Pathogenic

1 submitter3 publications

Elliptocytosis 3 (EL3); Pyropoikilocytosis, hereditary

About SPTB

This locus encodes a member of the spectrin gene family. Spectrin proteins, along with ankyrin, play a role in cell membrane organization and stability. The protein encoded by this locus functions in stability of erythrocyte membranes, and mutations in this gene have been associated with spherocytosis type 2, hereditary elliptocytosis, and neonatal hemolytic anemia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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