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rs386833600

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs386833600(-;-)
Make rs386833600(-;AG)
ReferenceGRCh38 38.1/141
Chromosome10
Position124411979
GeneOAT
is asnp
is mentioned by
dbSNPrs386833600
ebirs386833600
HLIrs386833600
Exacrs386833600
Varsomers386833600
Maprs386833600
PheGenIrs386833600
hapmaprs386833600
1000 genomesrs386833600
hgdprs386833600
ensemblrs386833600
gopubmedrs386833600
geneviewrs386833600
scholarrs386833600
googlers386833600
pharmgkbrs386833600
gwascentralrs386833600
openSNPrs386833600
23andMers386833600
23andMe allrs386833600
SNP Nexus

SNPshotrs386833600
SNPdbers386833600
MSV3drs386833600
GWAS Ctlgrs386833600
Max Magnitude0
ClinVar
Risk rs386833600(;)
Alt rs386833600(;)
Reference rs386833600(AG;AG)
Significance Other
Disease Ornithine aminotransferase deficiency
Variation info
Gene OAT
CLNDBN Ornithine aminotransferase deficiency
Reversed 1
HGVS NC_000010.10:g.126100548_126100549delCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000000201.3,


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