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rs1054487

From SNPedia

Orientationminus
Stabilizedminus
Make rs1054487(C;C)
Make rs1054487(C;T)
Make rs1054487(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position12661351
GeneMAN2B1
is asnp
is mentioned by
dbSNPrs1054487
ebirs1054487
HLIrs1054487
Exacrs1054487
Varsomers1054487
Maprs1054487
PheGenIrs1054487
hapmaprs1054487
1000 genomesrs1054487
hgdprs1054487
ensemblrs1054487
gopubmedrs1054487
geneviewrs1054487
scholarrs1054487
googlers1054487
pharmgkbrs1054487
gwascentralrs1054487
openSNPrs1054487
23andMers1054487
23andMe allrs1054487
SNP Nexus

SNPshotrs1054487
SNPdbers1054487
MSV3drs1054487
GWAS Ctlgrs1054487
GMAF0.3219
Max Magnitude
? (C;C) (C;T) (T;T) 28
Venter snp
Source plos
Gene MAN2B1
allele A
frequency 0.375
sift TOLERATED
HuRef 1103691093375
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.



Neighborrs1133330
Distance75


GET Evidence
MAN2B1-T312I
aa_change Thr312Ile
aa_change_short T312I
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.45752
summary



ClinVar
Risk rs1054487(A,G,T;A,G,T)
Alt rs1054487(A,G,T;A,G,T)
Reference rs1054487(C;C)
Significance Other
Disease not specified not provided
Variation info
Gene MAN2B1
CLNDBN not specified not provided
Reversed 1
HGVS NC_000019.9:g.12772165G>A; NC_000019.9:g.12772165G>T
CLNSRC ClinVar Emory University University of Chicago
CLNACC RCV000079081.7, RCV000224033.1,