RGD:11658576 Rat Genome Database

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Variant: RGD:11658576 -  Homo sapiens

RGD ID: 11658576
RS ID: rs1016109235
ClinVar ID: CV339179
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: OTC  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 38,280,611
GRCh38 X 38,421,358
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_008471.1:g.73876A>G
NC_000023.11:g.38421358A>G
NC_000023.10:g.38280611A>G
NM_000531.6:c.*276A>G
More... 		06/14/2016 3 prime utr variant uncertain significance all ages 1-9 / 100 000 Ornithine Carbamoyltransferase Deficiency Disease; Ornithine transcarbamylase deficiency; ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; OTC deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:OTC
Accession:NM_000531
Location:3UTRS;EXON

Gene Symbol:OTC
Accession:NM_001407092
Location:3UTRS;EXON

Gene Symbol:OTC
Accession:XM_017029556
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000350272 CLINVAR
dbSNP (RS) rs1016109235 CLINVAR
MedGen C0268542 CLINVAR
NCBI Gene OTC CLINVAR
OMIM 300461 CLINVAR
  311250 CLINVAR
SNOMED CT 80908008 CLINVAR