rs778338208

This variant is located in the NBAS gene.

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ClinVar annotation

Conflicting Classifications
2 submitters1 publication

Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins; not provided

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About 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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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