rs112839562
This variant is located in the ESD gene.
▶ClinVar annotation
Benign★★★☆
2 submitters2 publicationsAbout ESD
This gene encodes a serine hydrolase that belongs to the esterase D family. The encoded enzyme is active toward numerous substrates including O-acetylated sialic acids, and it may be involved in the recycling of sialic acids. This gene is used as a genetic marker for retinoblastoma and Wilson's disease. [provided by RefSeq, Feb 2009]
View all ESD variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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