rs534262249
This variant is located in the NBAS gene.
▶ClinVar annotation
Uncertain Significance★☆☆☆
1 submitter1 publicationAbout NBAS
This gene encodes a protein with two leucine zipper domains, a ribosomal protein S14 signature domain and a Sec39 like domain. The protein is thought to be involved in Golgi-to-ER transport. Mutations in this gene are associated with short stature, optic nerve atrophy, and Pelger-Huet anomaly. [provided by RefSeq, Oct 2012]
View all NBAS variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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