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rs386833601

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833601(C;G)
Make rs386833601(G;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position124411670
GeneOAT
is asnp
is mentioned by
dbSNPrs386833601
ebirs386833601
HLIrs386833601
Exacrs386833601
Varsomers386833601
Maprs386833601
PheGenIrs386833601
hapmaprs386833601
1000 genomesrs386833601
hgdprs386833601
ensemblrs386833601
gopubmedrs386833601
geneviewrs386833601
scholarrs386833601
googlers386833601
pharmgkbrs386833601
gwascentralrs386833601
openSNPrs386833601
23andMers386833601
23andMe allrs386833601
SNP Nexus

SNPshotrs386833601
SNPdbers386833601
MSV3drs386833601
GWAS Ctlgrs386833601
Max Magnitude0
ClinVar
Risk rs386833601(G;G)
Alt rs386833601(G;G)
Reference rs386833601(C;C)
Significance Probable-Pathogenic
Disease Ornithine aminotransferase deficiency
Variation info
Gene OAT
CLNDBN Ornithine aminotransferase deficiency
Reversed 1
HGVS NC_000010.10:g.126100239G>C
CLNSRC ClinVar
CLNACC RCV000049528.1,


[PMID 1992472OA-icon.png] Splice-mediated insertion of an Alu sequence inactivates ornithine delta-aminotransferase: a role for Alu elements in human mutation.