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rs386833423

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833423(C;T)
Make rs386833423(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position177439624
GeneAGA
is asnp
is mentioned by
dbSNPrs386833423
ebirs386833423
HLIrs386833423
Exacrs386833423
Varsomers386833423
Maprs386833423
PheGenIrs386833423
hapmaprs386833423
1000 genomesrs386833423
hgdprs386833423
ensemblrs386833423
gopubmedrs386833423
geneviewrs386833423
scholarrs386833423
googlers386833423
pharmgkbrs386833423
gwascentralrs386833423
openSNPrs386833423
23andMers386833423
23andMe allrs386833423
SNP Nexus

SNPshotrs386833423
SNPdbers386833423
MSV3drs386833423
GWAS Ctlgrs386833423
Max Magnitude0
ClinVar
Risk rs386833423(T;T)
Alt rs386833423(T;T)
Reference rs386833423(C;C)
Significance Probable-Pathogenic
Disease Aspartylglycosaminuria
Variation info
Gene AGA
CLNDBN Aspartylglycosaminuria
Reversed 1
HGVS NC_000004.11:g.178360778G>A
CLNSRC ClinVar
CLNACC RCV000049351.1,


[PMID 23271757] Aspartylglucosaminuria: unusual neonatal presentation in qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish family.