rs1026332275
This variant is located in the NHS gene.
▶ClinVar annotation
About NHS
This gene encodes a protein containing four conserved nuclear localization signals. The encoded protein functions in eye, tooth, craniofacial and brain development, and it can regulate actin remodeling and cell morphology. Mutations in this gene have been shown to cause Nance-Horan syndrome, and also X-linked cataract-40. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2014]
View all NHS variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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