rs1698161896

This variant is located in the IQSEC1 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆
1 submitter1 publication

Intellectual developmental disorder with short stature and behavioral abnormalities

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About IQSEC1

Predicted to enable protein kinase binding activity. Predicted to be involved in several processes, including positive regulation of focal adhesion disassembly; positive regulation of keratinocyte migration; and regulation of postsynaptic neurotransmitter receptor internalization. Located in centrosome; cytosol; and nucleoplasm. Implicated in intellectual developmental disorder with short stature and behavioral abnormalities and lung adenocarcinoma. Biomarker of lung non-small cell carcinoma. [provided by Alliance of Genome Resources, Jul 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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