rs148942765

This is a stop gained variant in the RPS26 gene.

▶

ClinVar annotation

Pathogenic★☆☆☆
4 submitters6 publications

Diamond-Blackfan anemia; Diamond-Blackfan anemia 10 (DBA10); Diamond-Blackfan anemia 15 with mandibulofacial dysostosis (DBA15)

View on ClinVar →

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]

View all RPS26 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…