rs1673582111

This variant is located in the KLHL20 gene.

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ClinVar annotation

Pathogenic★★★☆
11 submitters4 publications

Intellectual disability; Neurodevelopmental disorder; not provided; See cases; Seizure; KLHL20-related disorder; NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET SEIZURES, FACIAL DYSMORPHISM, AND BEHAVIORAL ABNORMALITIES

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About KLHL20

The protein encoded by this gene is a member of the kelch family of proteins, which is characterized by a 44-56 amino acid repeat motif. The kelch motif appears in many different polypeptide contexts and contains multiple potential protein-protein contact sites. Members of this family are present both throughout the cell and extracellularly, with diverse activities. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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