rs774259910

This variant is located in the ABHD16A gene.

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ClinVar annotation

Pathogenic
2 submitters1 publication

Complex hereditary spastic paraplegia; Spastic paraplegia 86, autosomal recessive

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About ABHD16A

A cluster of genes, BAT1-BAT5, has been localized in the vicinity of the genes for tumor necrosis factor alpha and tumor necrosis factor beta. These genes are all within the human major histocompatibility complex class III region. The protein encoded by this gene is thought to be involved in some aspects of immunity. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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