RGD:8646528 Rat Genome Database

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Variant: RGD:8646528 -  Homo sapiens

RGD ID: 8646528
RS ID: rs2279198
ClinVar ID: CV106001
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127398456  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 124,449,209
GRCh38 3 124,730,362
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_017037.1:g.4997A>G
NC_000003.12:g.124730362A>G
NC_000003.11:g.124449209A>G
NC_000003.10:g.125931899A>G
 06/14/2016 2kb upstream variant benign|not provided infancy <1 / 1 000 000 none provided; OPRT AND ODC DEFICIENCY; Orotate phosphoribosyltransferase and omp decarboxylase deficiency; OROTATE PHOSPHORIBOSYLTRANSFERASE AND OROTIDYLIC DECARBOXYLASE DEFICIENCY; OROTIC ACIDURIA I; Orotic aciduria II (formerly); Orotic aciduria type 1; Oroticaciduria; Oroticaciduria 1; Orotidylic decarboxylase deficiency; OROTIDYLIC PYROPHOSPHORYLASE AND OROTIDYLIC DECARBOXYLASE DEFICIENCY; UMP SYNTHASE DEFICIENCY; UMP synthtase deficiency; UMPS DEFICIENCY; URIDINE MONOPHOSPHATE SYNTHASE DEFICIENCY; Uridine monophosphate synthetase deficiency
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Oroticaciduria  (IAGP)

Variant Details
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000086507 CLINVAR
  RCV000266064 CLINVAR
dbSNP (RS) rs2279198 CLINVAR
MedGen C0268128 CLINVAR
  C3661900 CLINVAR
NCBI Gene UMPS CLINVAR
OMIM 258900 CLINVAR
  613891 CLINVAR
SNOMED CT 47641009 CLINVAR