rs146220182
This variant is located in the SHQ1 gene.
▶ClinVar annotation
Likely Benign★★★☆
2 submitters2 publicationsAbout SHQ1
SHQ1 assists in the assembly of H/ACA-box ribonucleoproteins that function in the processing of ribosomal RNAs, modification of spliceosomal small nuclear RNAs, and stabilization of telomerase (see MIM 602322) (Grozdanov et al., 2009 [PubMed 19383767]).[supplied by OMIM, Dec 2010]
View all SHQ1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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