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rs86312

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs86312(C;G)
Make rs86312(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position42544215
GeneNAGLU
is asnp
is mentioned by
dbSNPrs86312
ebirs86312
HLIrs86312
Exacrs86312
Varsomers86312
Maprs86312
PheGenIrs86312
hapmaprs86312
1000 genomesrs86312
hgdprs86312
ensemblrs86312
gopubmedrs86312
geneviewrs86312
scholarrs86312
googlers86312
pharmgkbrs86312
gwascentralrs86312
openSNPrs86312
23andMers86312
23andMe allrs86312
SNP Nexus

SNPshotrs86312
SNPdbers86312
MSV3drs86312
GWAS Ctlgrs86312
GMAF0.1162
Max Magnitude0
? (C;C) (C;G) (G;G) 28
Venter snp
Source plos
Gene NAGLU
allele G
frequency 0.958
sift AFFECT FUNCTION
HuRef 1103645326552
Disease Association Defects in NAGLU are the cause of mucopolysaccharidosis type IIIB (MPS-IIIB) (MIM:252920); also known as Sanfilippo syndome B. MPS-IIIB is an autosomal recessive disorder whose clinical features are severe mental deterioration but mild somatic manifestations in childhood, and death in the second decade. Biochemically, this disease is characterized by undegraded or partially degraded heparan sulfate which accumulates in lysosomes and is excreted in urine.



GET Evidence
NAGLU-R737G
aa_change Arg737Gly
aa_change_short R737G
impact benign
qualified_impact Insufficiently evaluated benign
overall_frequency 0.84486
summary



ClinVar
Risk rs86312(A,G,T;A,G,T)
Alt rs86312(A,G,T;A,G,T)
Reference rs86312(C;C)
Significance Non-pathogenic
Disease not specified
Variation info
Gene NAGLU
CLNDBN not specified
Reversed 0
HGVS NC_000017.10:g.40696233C>A; NC_000017.10:g.40696233C>G
CLNSRC ClinVar Emory University
CLNACC RCV000078456.4, RCV000078457.4,