RGD:150479847 Rat Genome Database

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Variant: RGD:150479847 -  Homo sapiens

RGD ID: 150479847
RS ID: rs2272237
ClinVar ID: CV1258320
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: REN  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 204,130,376
GRCh38 1 204,161,248
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000537.4:c.373+44C>G
NG_012122.1:g.10090C>G
NC_000001.11:g.204161248G>C
NC_000001.10:g.204130376G>C
 08/20/2019 intron variant benign EARLY-ONSET HYPERURICEMIA, ANEMIA, AND PROGRESSIVE KIDNEY FAILURE; none provided; Primitive renal tubule syndrome; Renotubular dysgenesis; TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 4
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:REN
Accession:NM_000537
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001685739 CLINVAR
  RCV001796689 CLINVAR
  RCV001796690 CLINVAR
dbSNP (RS) rs2272237 CLINVAR
MedGen C0266313 CLINVAR
  C2751310 CLINVAR
  C3661900 CLINVAR
NCBI Gene REN CLINVAR
OMIM 179820 CLINVAR
  267430 CLINVAR
  613092 CLINVAR
SNOMED CT 702397002 CLINVAR