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rs386833424

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(ACACA;ACACA) 0 common in clinvar
Make rs386833424(-;-)
Make rs386833424(-;ACACA)
ReferenceGRCh38 38.1/141
Chromosome4
Position177439597
GeneAGA
is asnp
is mentioned by
dbSNPrs386833424
ebirs386833424
HLIrs386833424
Exacrs386833424
Varsomers386833424
Maprs386833424
PheGenIrs386833424
hapmaprs386833424
1000 genomesrs386833424
hgdprs386833424
ensemblrs386833424
gopubmedrs386833424
geneviewrs386833424
scholarrs386833424
googlers386833424
pharmgkbrs386833424
gwascentralrs386833424
openSNPrs386833424
23andMers386833424
23andMe allrs386833424
SNP Nexus

SNPshotrs386833424
SNPdbers386833424
MSV3drs386833424
GWAS Ctlgrs386833424
Max Magnitude0
ClinVar
Risk rs386833424(;)
Alt rs386833424(;)
Reference rs386833424(ACACA;ACACA)
Significance Probable-Pathogenic
Disease Aspartylglycosaminuria
Variation info
Gene AGA
CLNDBN Aspartylglycosaminuria
Reversed 1
HGVS NC_000004.11:g.178360751_178360755delTGTGT
CLNSRC ClinVar
CLNACC RCV000049352.1,


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


[PMID 11309371] Molecular pathogenesis of a disease: structural consequences of aspartylglucosaminuria mutations.