rs34347775

This variant is located in the NUP107 gene.

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ClinVar annotation

Likely Benign★★★☆

7 submitters2 publications

not provided; Inborn genetic diseases; Galloway-Mowat syndrome 7;Ovarian dysgenesis 6;Nephrotic syndrome, type 11; NUP107-related disorder

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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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