RGD:11616244 Rat Genome Database

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Variant: RGD:11616244 -  Homo sapiens

RGD ID: 11616244
RS ID: rs541169952
ClinVar ID: CV337635
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: UPB1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 24,891,361
GRCh38 22 24,495,393
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
NM_016327.2:c.-11G>A
NC_000022.11:g.24495393G>A
NC_000022.10:g.24891361G>A
NG_012858.1:g.5111G>A
More... 		06/14/2016 5 prime utr variant uncertain significance infancy <1 / 1 000 000 Beta-ureidopropionase deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:UPB1
Accession:XM_047441405
Location:5UTRS;EXON

Gene Symbol:UPB1
Accession:XM_047441404
Location:5UTRS;EXON

Gene Symbol:UPB1
Accession:XM_011530223
Location:5UTRS;EXON

Gene Symbol:UPB1
Accession:NM_016327
Location:5UTRS;EXON

Gene Symbol:UPB1
Accession:XR_001755249
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000292674 CLINVAR
dbSNP (RS) rs541169952 CLINVAR
MedGen C1291512 CLINVAR
NCBI Gene UPB1 CLINVAR
OMIM 606673 CLINVAR
  613161 CLINVAR
SNOMED CT 124511000 CLINVAR