RGD:8566520 Rat Genome Database

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Variant: RGD:8566520 -  Homo sapiens

RGD ID: 8566520
RS ID: rs5186
ClinVar ID: CV33104
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AGTR1  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 3 148,459,988
GRCh38 3 148,742,201
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008468.1:g.49331A>C
NC_000003.12:g.148742201A>C
NC_000003.11:g.148459988A>C
NM_000685.5:c.*86A>C
More... 		08/16/2021 3 prime utr variant|utr-3 risk factor|benign|likely benign none provided; Primitive renal tubule syndrome; Renal tubular dysgenesis of genetic origin; Renotubular dysgenesis
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:AGTR1
Accession:NM_000685
Location:3UTRS;EXON

Gene Symbol:AGTR1
Accession:NM_004835
Location:3UTRS;EXON

Gene Symbol:AGTR1
Accession:NM_032049
Location:3UTRS;EXON

Gene Symbol:AGTR1
Accession:NM_009585
Location:3UTRS;EXON

Gene Symbol:AGTR1
Accession:NM_031850
Location:3UTRS;EXON

Gene Symbol:AGTR1
Accession:NM_001382737
Location:3UTRS;EXON

Gene Symbol:AGTR1
Accession:NM_001382736
Location:3UTRS;EXON

Variant Samples
Additional References at PubMed
PMID:8021009   PMID:9084931   PMID:15042429   PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000019688 CLINVAR
  RCV000374969 CLINVAR
  RCV001723581 CLINVAR
  RCV002482889 CLINVAR
dbSNP (RS) rs5186 CLINVAR
MedGen C0266313 CLINVAR
  C3661900 CLINVAR
  CN305331 CLINVAR
NCBI Gene AGTR1 CLINVAR
OMIM 106165 CLINVAR
  145500 CLINVAR
  267430 CLINVAR
OMIM Allele 106165.0001 CLINVAR
SNOMED CT 702397002 CLINVAR