rs115498909

This variant is located in the NUP205 gene.

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ClinVar annotation

Benign★★★☆
3 submitters1 publication

not provided; Uterine corpus endometrial carcinoma; Uveal melanoma; Thymoma; Ovarian serous cystadenocarcinoma; Malignant tumor of esophagus

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About NUP205

This gene encodes a nucleoporin, which is a subunit of the nuclear pore complex that functions in active transport of proteins, RNAs and ribonucleoprotein particles between the nucleus and cytoplasm. Mutations in this gene are associated with steroid-resistant nephrotic syndrome. [provided by RefSeq, Jul 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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