rs730882216

This is a variant in the NUP107 gene that changes a methionine to an isoleucine.

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ClinVar annotation

Pathogenic★★★☆
5 submitters5 publications

Early onset focal segmental glomerulosclerosis; Galloway-Mowat syndrome 7; Global developmental delay (DD); Light complexion

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About NUP107

This gene encodes a member of the nucleoporin family. The protein is localized to the nuclear rim and is an essential component of the nuclear pore complex (NPC). All molecules entering or leaving the nucleus either diffuse through or are actively transported by the NPC. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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