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rs386833595

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833595(A;A)
Make rs386833595(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position124400881
GeneOAT
is asnp
is mentioned by
dbSNPrs386833595
ebirs386833595
HLIrs386833595
Exacrs386833595
Varsomers386833595
Maprs386833595
PheGenIrs386833595
hapmaprs386833595
1000 genomesrs386833595
hgdprs386833595
ensemblrs386833595
gopubmedrs386833595
geneviewrs386833595
scholarrs386833595
googlers386833595
pharmgkbrs386833595
gwascentralrs386833595
openSNPrs386833595
23andMers386833595
23andMe allrs386833595
SNP Nexus

SNPshotrs386833595
SNPdbers386833595
MSV3drs386833595
GWAS Ctlgrs386833595
Max Magnitude0
ClinVar
Risk rs386833595(A;A)
Alt rs386833595(A;A)
Reference rs386833595(G;G)
Significance Probable-Pathogenic
Disease Ornithine aminotransferase deficiency
Variation info
Gene OAT
CLNDBN Ornithine aminotransferase deficiency
Reversed 1
HGVS NC_000010.10:g.126089450C>T
CLNSRC ClinVar
CLNACC RCV000049521.1,


[PMID 1609808OA-icon.png] Nonsense-codon mutations of the ornithine aminotransferase gene with decreased levels of mutant mRNA in gyrate atrophy.