rs1661257691

This variant is located in the RPS7 gene.

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ClinVar annotation

Pathogenic★★★☆
2 submitters9 publications

Diamond-Blackfan anemia 8

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Research that mentions this SNP (1)

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Compound heterozygous HAX1 mutations in a Swedish patient with severe congenital neutropenia and no neurodevelopmental abnormalities
Case 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.

Traits studied:Aplastic anemiaAtaxia-pancytopenia syndromeBone marrow failure syndromesDiamond-Blackfan anemiaDyskeratosis congenitaFanconi anemiaHypoplastic bone marrow failureMyelodysplastic syndromeSevere congenital neutropeniaShwachman-Diamond syndrome
PubMedDOIMetascience Observatory

About RPS7

Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S7E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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