rs113993998

This is a stop gained variant in the SBDS gene.

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ClinVar annotation

Pathogenic★★★☆

5 submitters3 publications

Aplastic anemia; Shwachman-Diamond syndrome 1 (SDS1)

About SBDS

This gene encodes a highly conserved protein that plays an essential role in ribosome biogenesis. The encoded protein interacts with elongation factor-like GTPase 1 to disassociate eukaryotic initiation factor 6 from the late cytoplasmic pre-60S ribosomal subunit allowing assembly of the 80S subunit. Mutations within this gene are associated with the autosomal recessive disorder Shwachman-Bodian-Diamond syndrome. This gene has a closely linked pseudogene that is distally located. [provided by RefSeq, Jan 2017]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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