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rs67954347

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs67954347(G;G)
Make rs67954347(G;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position38401367
GeneOTC
is asnp
is mentioned by
dbSNPrs67954347
ebirs67954347
HLIrs67954347
Exacrs67954347
Varsomers67954347
Maprs67954347
PheGenIrs67954347
hapmaprs67954347
1000 genomesrs67954347
hgdprs67954347
ensemblrs67954347
gopubmedrs67954347
geneviewrs67954347
scholarrs67954347
googlers67954347
pharmgkbrs67954347
gwascentralrs67954347
openSNPrs67954347
23andMers67954347
23andMe allrs67954347
SNP Nexus

SNPshotrs67954347
SNPdbers67954347
MSV3drs67954347
GWAS Ctlgrs67954347
Max Magnitude0
ClinVar
Risk rs67954347(A,C,G;A,C,G)
Alt rs67954347(A,C,G;A,C,G)
Reference rs67954347(T;T)
Significance Pathogenic
Disease not provided
Variation info
Gene OTC
CLNDBN not provided
Reversed 0
HGVS NC_000023.10:g.38260620T>A; NC_000023.10:g.38260620T>C; NC_000023.10:g.38260620T>G
CLNSRC ClinVar
CLNACC RCV000083451.1, RCV000083452.1, RCV000083453.1,



[PMID 11793483] Identification of seven novel missense mutations, two splice-site mutations, two microdeletions and a polymorphic amino acid substitution in the gene for ornithine transcarbamylase (OTC) in patients with OTC deficiency.


[PMID 16786505] Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene.