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rs66556380

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs66556380(A;T)
Make rs66556380(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position38401273
GeneOTC
is asnp
is mentioned by
dbSNPrs66556380
ebirs66556380
HLIrs66556380
Exacrs66556380
Varsomers66556380
Maprs66556380
PheGenIrs66556380
hapmaprs66556380
1000 genomesrs66556380
hgdprs66556380
ensemblrs66556380
gopubmedrs66556380
geneviewrs66556380
scholarrs66556380
googlers66556380
pharmgkbrs66556380
gwascentralrs66556380
openSNPrs66556380
23andMers66556380
23andMe allrs66556380
SNP Nexus

SNPshotrs66556380
SNPdbers66556380
MSV3drs66556380
GWAS Ctlgrs66556380
Max Magnitude0
ClinVar
Risk rs66556380(C,G,T;C,G,T)
Alt rs66556380(C,G,T;C,G,T)
Reference rs66556380(A;A)
Significance Pathogenic
Disease not provided Ornithine carbamoyltransferase deficiency
Variation info
Gene OTC
CLNDBN not provided Ornithine carbamoyltransferase deficiency
Reversed 0
HGVS NC_000023.10:g.38260526A>C; NC_000023.10:g.38260526A>G; NC_000023.10:g.38260526A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000083417.1, RCV000083418.1, RCV000011745.9, RCV000083419.1,


[PMID 2035531OA-icon.png] Identification of RNA splicing errors resulting in human ornithine transcarbamylase deficiency.


[PMID 10946359] Genotype spectrum of ornithine transcarbamylase deficiency: correlation with the clinical and biochemical phenotype.