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rs386833612

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GGGGT;GGGGT) 0 common in clinvar
Make rs386833612(-;-)
Make rs386833612(-;TGGGG)
Make rs386833612(TGGGG;TGGGG)
ReferenceGRCh38 38.1/141
Chromosome10
Position124405548
GeneOAT
is asnp
is mentioned by
dbSNPrs386833612
ebirs386833612
HLIrs386833612
Exacrs386833612
Varsomers386833612
Maprs386833612
PheGenIrs386833612
hapmaprs386833612
1000 genomesrs386833612
hgdprs386833612
ensemblrs386833612
gopubmedrs386833612
geneviewrs386833612
scholarrs386833612
googlers386833612
pharmgkbrs386833612
gwascentralrs386833612
openSNPrs386833612
23andMers386833612
23andMe allrs386833612
SNP Nexus

SNPshotrs386833612
SNPdbers386833612
MSV3drs386833612
GWAS Ctlgrs386833612
Max Magnitude0
ClinVar
Risk rs386833612(;)
Alt rs386833612(;)
Reference rs386833612(GGGGT;GGGGT)
Significance Probable-Pathogenic
Disease Ornithine aminotransferase deficiency
Variation info
Gene OAT
CLNDBN Ornithine aminotransferase deficiency
Reversed 1
HGVS NC_000010.10:g.126094117_126094121delCCCCA
CLNSRC ClinVar
CLNACC RCV000049539.1,


[PMID 22674428] Gyrate atrophy: clinical and genetic findings in a female without arginine-restricted diet during her first 39 years of life and report of a new OAT gene mutation.