rs201824659
This is a splice region variant variant in the PRMT7 gene.
▶ClinVar annotation
Neurodevelopmental abnormality; PRMT7-related disorder; Short stature-brachydactyly-obesity-global developmental delay syndrome
View on ClinVar →About PRMT7
This gene encodes a member of the protein arginine N-methyltransferase family of proteins. The encoded enzyme transfers single methyl groups to arginine residues to generate monomethylarginines on histone proteins as well as other protein substrates. This enzyme plays a role in a wide range of biological processes, including neuronal differentiation, male germ line imprinting, small nuclear ribonucleoprotein biogenesis, and regulation of the Wnt signaling pathway. Mutations in this gene underlie multiple related syndromes in human patients characterized by intellectual disability, short stature and other features. The encoded protein may promote breast cancer cell invasion and metastasis in human patients. [provided by RefSeq, May 2017]
View all PRMT7 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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