rs143951267

This is a variant in the RPS26 gene that changes a methionine to an leucine.

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ClinVar annotation

Pathogenic★☆☆☆
8 submitters5 publications

Diamond-Blackfan anemia 10; Diamond-Blackfan anemia; not provided; Ovarian serous cystadenocarcinoma

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About RPS26

This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S26E family of ribosomal proteins. Mutations in this gene are found in Diamond-Blackfan anemia 10. There are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Aug 2017]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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