rs115770001
This variant is located in the MLC1 gene.
▶ClinVar annotation
About MLC1
The function of this gene product is unknown; however, homology to other proteins suggests that it may be an integral membrane transporter. Mutations in this gene have been associated with megalencephalic leukoencephalopathy with subcortical cysts, an autosomal recessive neurological disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
View all MLC1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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