rs201194139
This variant is located in the SLC38A8 gene.
▶ClinVar annotation
Uncertain Significance★★★☆
2 submitters2 publicationsAbout SLC38A8
This gene encodes a putative sodium-dependent amino-acid/proton antiporter. The protein has eleven transmembrane domains, an extracellular N-terminus and an intracellular C-terminal tail. The protein is a member of the SLC38 sodium-coupled neutral amino acid transporter family of proteins. Mutations in this gene result in foveal hypoplasia with or without optic nerve misrouting and/or anterior segment dysgenesis. [provided by RefSeq, May 2014]
View all SLC38A8 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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