{{Rsnum
|rsid=80358245
|Chromosome=22
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=MLC1
|position=50080387
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=MLC1
}}{{omim
|id=605908
|rsnum=80358245
|variant=0002
}}{{ClinVar
|rsid=80358245
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=50518816
|CHROM=22
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050168000000000002110100
|GENEINFO=MLC1:23209
|GENE_NAME=MLC1
|GENE_ID=23209
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000022.10:g.50518816G>A
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=NBK1535; 605908.0002
|CLNSIG=5
|CLNCUI=C1858854; C1858854
|CLNDBN=Megalencephalic leukoencephalopathy with subcortical cysts 1
|Disease=Megalencephalic leukoencephalopathy with subcortical cysts 1
|CLNACC=RCV000004979.2
|Tags=RV;PM;PMC;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1535:C1858854:604004:2478
}}{{PMID|11254442|OA=1
}} Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts.

{{PMID|14615938}} A common mutation and a novel mutation in Japanese patients with van der Knaap disease.

{{PMID|16470554}} Vacuolating megalencephalic leukoencephalopathy with subcortical cysts: functional studies of novel variants in MLC1.