rs548099484

This variant is located in the KALRN gene.

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ClinVar annotation

Likely Benign
1 submitter

KALRN-related disorder

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About KALRN

Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein that interacts with the huntingtin-associated protein 1, which is a huntingtin binding protein that may function in vesicle trafficking. [provided by RefSeq, Apr 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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