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rs138642840

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs138642840(C;T)
Make rs138642840(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position46192097
GenePOMGNT1
is asnp
is mentioned by
dbSNPrs138642840
ebirs138642840
HLIrs138642840
Exacrs138642840
Varsomers138642840
Maprs138642840
PheGenIrs138642840
hapmaprs138642840
1000 genomesrs138642840
hgdprs138642840
ensemblrs138642840
gopubmedrs138642840
geneviewrs138642840
scholarrs138642840
googlers138642840
pharmgkbrs138642840
gwascentralrs138642840
openSNPrs138642840
23andMers138642840
23andMe allrs138642840
SNP Nexus

SNPshotrs138642840
SNPdbers138642840
MSV3drs138642840
GWAS Ctlgrs138642840
GMAF0.0009183
Max Magnitude0
ClinVar
Risk rs138642840(A,T;A,T)
Alt rs138642840(A,T;A,T)
Reference rs138642840(C;C)
Significance Pathogenic
Disease Muscle eye brain disease not provided
Variation info
Gene POMGNT1
CLNDBN Muscle eye brain disease not provided
Reversed 0
HGVS NC_000001.10:g.46657769C>A; NC_000001.10:g.46657769C>T
CLNSRC HGMD
CLNACC RCV000049996.1, RCV000049995.1, RCV000153760.3,


[PMID 11709191] Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.


[PMID 12588800] Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease.


[PMID 17559086] Molecular heterogeneity in fetal forms of type II lissencephaly.


[PMID 17878207] Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.


[PMID 17906881] Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.


[PMID 15466003OA-icon.png] POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.


[PMID 17881266] Severe muscle-eye-brain disease is associated with a homozygous mutation in the POMGnT1 gene.