RGD:11632333 Rat Genome Database

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Variant: RGD:11632333 -  Homo sapiens

RGD ID: 11632333
RS ID: rs201838809
ClinVar ID: CV348048
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: UPK3A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 45,683,042
GRCh38 22 45,287,161
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
NC_000022.11:g.45287161C>T
NC_000022.10:g.45683042C>T
NM_006953.3:c.209-11C>T
NG_016203.1:g.7175C>T
More... 		06/14/2016 intron variant uncertain significance antenatal 1-5 / 10 000 HEREDITARY RENAL APLASIA; RENAL APLASIA; Urogenital adysplasia, hereditary
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Renal agenesis  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:UPK3A
Accession:NM_001167574
Location:INTRON

Gene Symbol:UPK3A
Accession:NM_006953
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000405375 CLINVAR
dbSNP (RS) rs201838809 CLINVAR
MedGen C1619700 CLINVAR
NCBI Gene UPK3A CLINVAR
OMIM 191830 CLINVAR
  611559 CLINVAR