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rs67993095

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs67993095(A;G)
Make rs67993095(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position38411899
GeneOTC
is asnp
is mentioned by
dbSNPrs67993095
ebirs67993095
HLIrs67993095
Exacrs67993095
Varsomers67993095
Maprs67993095
PheGenIrs67993095
hapmaprs67993095
1000 genomesrs67993095
hgdprs67993095
ensemblrs67993095
gopubmedrs67993095
geneviewrs67993095
scholarrs67993095
googlers67993095
pharmgkbrs67993095
gwascentralrs67993095
openSNPrs67993095
23andMers67993095
23andMe allrs67993095
SNP Nexus

SNPshotrs67993095
SNPdbers67993095
MSV3drs67993095
GWAS Ctlgrs67993095
Max Magnitude0
ClinVar
Risk rs67993095(G,T;G,T)
Alt rs67993095(G,T;G,T)
Reference rs67993095(A;A)
Significance Pathogenic
Disease not provided
Variation info
Gene OTC
CLNDBN not provided
Reversed 0
HGVS NC_000023.10:g.38271152A>G; NC_000023.10:g.38271152A>T
CLNSRC ClinVar
CLNACC RCV000083600.1, RCV000083601.1,



[PMID 11117428] Mutation detection in 65 families with a possible diagnosis of ornithine carbamoyltransferase deficiency including 14 novel mutations.


[PMID 8807340] Partial duplication [dup. TCAC (178)] and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemia.