rs1571673661

This variant is located in the CERS2 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆
1 submitter1 publication

Marfanoid habitus and intellectual disability

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About CERS2

This gene encodes a protein that has sequence similarity to yeast longevity assurance gene 1. Mutation or overexpression of the related gene in yeast has been shown to alter yeast lifespan. The human protein may play a role in the regulation of cell growth. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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