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rs386833417

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GCCCTTT;GCCCTTT) 0 common in clinvar
Make rs386833417(-;-)
Make rs386833417(-;GCCCTTT)
ReferenceGRCh38 38.1/141
Chromosome4
Position177442268
GeneAGA
is asnp
is mentioned by
dbSNPrs386833417
ebirs386833417
HLIrs386833417
Exacrs386833417
Varsomers386833417
Maprs386833417
PheGenIrs386833417
hapmaprs386833417
1000 genomesrs386833417
hgdprs386833417
ensemblrs386833417
gopubmedrs386833417
geneviewrs386833417
scholarrs386833417
googlers386833417
pharmgkbrs386833417
gwascentralrs386833417
openSNPrs386833417
23andMers386833417
23andMe allrs386833417
SNP Nexus

SNPshotrs386833417
SNPdbers386833417
MSV3drs386833417
GWAS Ctlgrs386833417
Max Magnitude0
ClinVar
Risk rs386833417(;)
Alt rs386833417(;)
Reference rs386833417(GCCCTTT;GCCCTTT)
Significance Other
Disease Aspartylglycosaminuria
Variation info
Gene AGA LOC285500
CLNDBN Aspartylglycosaminuria
Reversed 1
HGVS NC_000004.11:g.178363422_178363428delAAAGGGC
CLNSRC OMIM Allelic Variant
CLNACC RCV000000248.6,


[PMID 1722323OA-icon.png] Spectrum of mutations in aspartylglucosaminuria.


[PMID 8457202OA-icon.png] Characterization of three alleles causing aspartylglycosaminuria: two from a British family and one from an American patient.