rs111939179
This variant is located in the ARSD gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type IAssociationN=18Jaijo T. et al.(2006)· Human Mutation
A whole genome sequencing study of 6 Spanish family trios with early-onset sporadic Ménière disease found autosomal recessive inheritance with homozygous variants in SH3GL1 and LPCAT2 (missense SNVs) and RANBP9 and ASH2L (non-missense SNVs) in the first four trios. Autosomal dominant inheritance with de novo variants was identified in trios 5 and 6. Early-onset MD patients showed higher migraine prevalence than late-onset patients, with variable cytokine levels (CCL18, CCL3, CXCL4) across patient groups.
About ARSD
The protein encoded by this gene is a member of the sulfatase family. Sulfatases are essential for the correct composition of bone and cartilage matrix. The encoded protein is postranslationally glycosylated and localized to the lysosome. This gene is located within a cluster of similar arylsulfatase genes on chromosome X. A related pseudogene has been identified in the pseudoautosomal region of chromosome Y. [provided by RefSeq, Jul 2011]
View all ARSD variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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