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rs386833431

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833431(A;A)
Make rs386833431(A;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position177436297
GeneAGA
is asnp
is mentioned by
dbSNPrs386833431
ebirs386833431
HLIrs386833431
Exacrs386833431
Varsomers386833431
Maprs386833431
PheGenIrs386833431
hapmaprs386833431
1000 genomesrs386833431
hgdprs386833431
ensemblrs386833431
gopubmedrs386833431
geneviewrs386833431
scholarrs386833431
googlers386833431
pharmgkbrs386833431
gwascentralrs386833431
openSNPrs386833431
23andMers386833431
23andMe allrs386833431
SNP Nexus

SNPshotrs386833431
SNPdbers386833431
MSV3drs386833431
GWAS Ctlgrs386833431
Max Magnitude0
ClinVar
Risk rs386833431(A;A)
Alt rs386833431(A;A)
Reference rs386833431(G;G)
Significance Probable-Pathogenic
Disease Aspartylglycosaminuria
Variation info
Gene AGA
CLNDBN Aspartylglycosaminuria
Reversed 1
HGVS NC_000004.11:g.178357451C>T
CLNSRC ClinVar
CLNACC RCV000049359.1,


[PMID 10399108] A novel exonic mutation in the aspartylglucosaminidase gene causes exon skipping.