rs1340791452
This variant is located in the SPTB gene.
▶ClinVar annotation
Uncertain Significance★★★☆
2 submitters1 publicationAbout 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]
View all SPTB variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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