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rs1054486

From SNPedia

Orientationminus
Stabilizedminus
Make rs1054486(C;C)
Make rs1054486(C;G)
Make rs1054486(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position12663394
GeneMAN2B1
is asnp
is mentioned by
dbSNPrs1054486
ebirs1054486
HLIrs1054486
Exacrs1054486
Varsomers1054486
Maprs1054486
PheGenIrs1054486
hapmaprs1054486
1000 genomesrs1054486
hgdprs1054486
ensemblrs1054486
gopubmedrs1054486
geneviewrs1054486
scholarrs1054486
googlers1054486
pharmgkbrs1054486
gwascentralrs1054486
openSNPrs1054486
23andMers1054486
23andMe allrs1054486
SNP Nexus

SNPshotrs1054486
SNPdbers1054486
MSV3drs1054486
GWAS Ctlgrs1054486
GMAF0.2305
Max Magnitude
? (C;C) (C;G) (G;G) 28
Venter snp
Source plos
Gene MAN2B1
allele C
frequency 0.325
sift TOLERATED
HuRef 1103691093370
Disease Association Defects in MAN2B1 are the cause of lysosomal alpha- mannosidosis (AM) (MIM:248500). AM is a lysosomal storage disease characterized by accumulation of unbranched oligosaccharide chains. This accumulation is expressed histologically as cytoplasmic vacuolation predominantly in the CNS and parenchymatuos organs. Depending on the clinical findings at the age of onset, a severe infantile (type I) and a mild juvenile (type II) form of alpha-mannosidosis are recognized. There is considerable variation in the clinical expression with mental retardation, recurrent infections, impaired hearing and Hurler- like skeletal changes being the most consistent abnormalities.



GET Evidence
MAN2B1-L278V
aa_change Leu278Val
aa_change_short L278V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.321249
summary



ClinVar
Risk rs1054486(G;G)
Alt rs1054486(G;G)
Reference rs1054486(C;C)
Significance Other
Disease not specified
Variation info
Gene MAN2B1
CLNDBN not specified
Reversed 1
HGVS NC_000019.9:g.12774208G>C
CLNSRC ClinVar Emory University University of Chicago
CLNACC RCV000079080.7,