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rs386833621

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833621(A;A)
Make rs386833621(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position124401788
GeneOAT
is asnp
is mentioned by
dbSNPrs386833621
ebirs386833621
HLIrs386833621
Exacrs386833621
Varsomers386833621
Maprs386833621
PheGenIrs386833621
hapmaprs386833621
1000 genomesrs386833621
hgdprs386833621
ensemblrs386833621
gopubmedrs386833621
geneviewrs386833621
scholarrs386833621
googlers386833621
pharmgkbrs386833621
gwascentralrs386833621
openSNPrs386833621
23andMers386833621
23andMe allrs386833621
SNP Nexus

SNPshotrs386833621
SNPdbers386833621
MSV3drs386833621
GWAS Ctlgrs386833621
Max Magnitude0
ClinVar
Risk rs386833621(A;A)
Alt rs386833621(A;A)
Reference rs386833621(G;G)
Significance Probable-Pathogenic
Disease Ornithine aminotransferase deficiency
Variation info
Gene OAT
CLNDBN Ornithine aminotransferase deficiency
Reversed 1
HGVS NC_000010.10:g.126090357C>T
CLNSRC ClinVar
CLNACC RCV000049547.1,


[PMID 1487247] A single-base change at a splice acceptor site in the ornithine aminotransferase gene causes abnormal RNA splicing in gyrate atrophy.


[PMID 22182799] Retinal structure, function, and molecular pathologic features in gyrate atrophy.


[PMID 23076989] Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina.