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rs386833419

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833419(A;A)
Make rs386833419(A;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position177440362
GeneAGA
is asnp
is mentioned by
dbSNPrs386833419
ebirs386833419
HLIrs386833419
Exacrs386833419
Varsomers386833419
Maprs386833419
PheGenIrs386833419
hapmaprs386833419
1000 genomesrs386833419
hgdprs386833419
ensemblrs386833419
gopubmedrs386833419
geneviewrs386833419
scholarrs386833419
googlers386833419
pharmgkbrs386833419
gwascentralrs386833419
openSNPrs386833419
23andMers386833419
23andMe allrs386833419
SNP Nexus

SNPshotrs386833419
SNPdbers386833419
MSV3drs386833419
GWAS Ctlgrs386833419
Max Magnitude0
ClinVar
Risk rs386833419(A;A)
Alt rs386833419(A;A)
Reference rs386833419(T;T)
Significance Probable-Pathogenic
Disease Aspartylglycosaminuria
Variation info
Gene AGA
CLNDBN Aspartylglycosaminuria
Reversed 1
HGVS NC_000004.11:g.178361516A>T
CLNSRC ClinVar
CLNACC RCV000049347.1,


[PMID 7881426] Characterization of a point mutation in aspartylglucosaminidase gene: evidence for a readthrough of a translational stop codon.