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rs80358241

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(CTG;CTG) 0 common in clinvar
Make rs80358241(-;-)
Make rs80358241(-;C)
Make rs80358241(C;C)
ReferenceGRCh38 38.1/141
Chromosome22
Position50084767
GeneMLC1
is asnp
is mentioned by
dbSNPrs80358241
ebirs80358241
HLIrs80358241
Exacrs80358241
Varsomers80358241
Maprs80358241
PheGenIrs80358241
hapmaprs80358241
1000 genomesrs80358241
hgdprs80358241
ensemblrs80358241
gopubmedrs80358241
geneviewrs80358241
scholarrs80358241
googlers80358241
pharmgkbrs80358241
gwascentralrs80358241
openSNPrs80358241
23andMers80358241
23andMe allrs80358241
SNP Nexus

SNPshotrs80358241
SNPdbers80358241
MSV3drs80358241
GWAS Ctlgrs80358241
Max Magnitude0
OMIM605908
Desc
Variant0011
Relatedalso
ClinVar
Risk rs80358241(C;C)
Alt rs80358241(C;C)
Reference rs80358241(CTG;CTG)
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.50523197dupG
CLNSRC OMIM Allelic Variant
CLNACC RCV000004987.3,


[PMID 11935341] Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts.

[PMID 12189496] Megalencephalic leukoencephalopathy with subcortical cysts; a founder effect in Israeli patients and a higher than expected carrier rate among Libyan Jews.