rs771541606

This variant is located in the TUSC3 gene.

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ClinVar annotation

Likely Benign★☆☆☆

1 submitter1 publication

Intellectual disability, autosomal recessive 7

About TUSC3

This gene encodes a protein that has been associated with several biological functions including cellular magnesium uptake, protein glycosylation and embryonic development. This protein localizes to the endoplasmic reticulum and acts as a component of the oligosaccharyl transferase complex which is responsible for N-linked protein glycosylation. This gene is a candidate tumor suppressor gene. Homozygous mutations in this gene are associated with autosomal recessive nonsyndromic mental retardation-7 and in the proliferation and invasiveness of several cancers including metastatic pancreatic cancer, ovarian cancer and glioblastoma multiform. [provided by RefSeq, Oct 2017]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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