rs201494537

This variant is located in the KLHL40 gene.

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ClinVar annotation

Uncertain Significance★★★☆
2 submitters1 publication

Nemaline myopathy 8; Inborn genetic diseases

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About KLHL40

This gene encodes a protein containing a BACK domain, a BTB/POZ domain, and 5 Kelch repeats, however, its exact function is not known. The gene and the multi-domain protein structure are conserved across different taxa, including primates, rodents, chicken and zebrafish. [provided by RefSeq, Dec 2012]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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