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rs80358245

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80358245(C;T)
Make rs80358245(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position50080387
GeneMLC1
is asnp
is mentioned by
dbSNPrs80358245
ebirs80358245
HLIrs80358245
Exacrs80358245
Varsomers80358245
Maprs80358245
PheGenIrs80358245
hapmaprs80358245
1000 genomesrs80358245
hgdprs80358245
ensemblrs80358245
gopubmedrs80358245
geneviewrs80358245
scholarrs80358245
googlers80358245
pharmgkbrs80358245
gwascentralrs80358245
openSNPrs80358245
23andMers80358245
23andMe allrs80358245
SNP Nexus

SNPshotrs80358245
SNPdbers80358245
MSV3drs80358245
GWAS Ctlgrs80358245
Max Magnitude0
OMIM605908
Desc
Variant0002
Relatedalso
ClinVar
Risk rs80358245(T;T)
Alt rs80358245(T;T)
Reference rs80358245(C;C)
Significance Pathogenic
Disease Megalencephalic leukoencephalopathy with subcortical cysts 1
Variation info
Gene MLC1
CLNDBN Megalencephalic leukoencephalopathy with subcortical cysts 1
Reversed 1
HGVS NC_000022.10:g.50518816G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004979.3,


[PMID 11254442OA-icon.png] 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.