rs137933052

This is a variant in the TNC gene that changes a valine to an methionine.

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ClinVar annotation

Pathogenic★☆☆☆
3 submitters2 publications

Autosomal dominant nonsyndromic hearing loss 56; not specified

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About TNC

This gene encodes an extracellular matrix protein with a spatially and temporally restricted tissue distribution. This protein is homohexameric with disulfide-linked subunits, and contains multiple EGF-like and fibronectin type-III domains. It is implicated in guidance of migrating neurons as well as axons during development, synaptic plasticity, and neuronal regeneration. [provided by RefSeq, Jul 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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