RGD:11593333 Rat Genome Database

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Variant: RGD:11593333 -  Homo sapiens

RGD ID: 11593333
RS ID: rs2242249
ClinVar ID: CV292192
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: UMPS  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 124,464,257
GRCh38 3 124,745,410
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.20045C>A
NC_000003.12:g.124745410C>A
NC_000003.11:g.124464257C>A
NM_000373.4:c.*1326C>A
More... 		01/12/2018 3 prime utr variant benign|likely benign infancy <1 / 1 000 000 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 Transcripts
Gene Symbol:UMPS
Accession:NM_000373
Location:3UTRS;EXON

Gene Symbol:UMPS
Accession:NR_033437
Location:EXON;NON-CODING

Gene Symbol:UMPS
Accession:NR_033434
Location:EXON;NON-CODING

Gene Symbol:UMPS
Accession:XR_001740253
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000348000 CLINVAR
dbSNP (RS) rs2242249 CLINVAR
MedGen C0268128 CLINVAR
NCBI Gene UMPS CLINVAR
OMIM 258900 CLINVAR
  613891 CLINVAR
SNOMED CT 47641009 CLINVAR