rs120074160
This is a stop gained variant in the SBDS gene.
▶ClinVar annotation
Agenesis of permanent teeth; Aplastic anemia; Deeply set eye; Inborn genetic diseases; Intellectual disability; Microcephaly; Short stature; Shwachman-Diamond syndrome 1 (SDS1); Splenomegaly
View on ClinVar →▶Research that mentions this SNP (1)
▶Compound heterozygous HAX1 mutations in a Swedish patient with severe congenital neutropenia and no neurodevelopmental abnormalitiesCase reportN=115Göran Carlsson et al.(2009)· Pediatric Blood & Cancer
A prospective study of 115 patients with hypoplastic bone marrow failure syndromes using whole exome sequencing and targeted NGS panel testing identified pathogenic variants in 54% (62/115) of cases. Genomic characterization changed diagnostic categorization in 26% of patients, including reclassification from acquired to inherited causes. Multiple novel pathogenic variants were identified in TERT, FANCA, RPS7, and SAMD9 genes.
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]
View all SBDS variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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