RGD:11591973 Rat Genome Database

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Variant: RGD:11591973 -  Homo sapiens

RGD ID: 11591973
RS ID: rs144520513
ClinVar ID: CV289837
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AGTR1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 148,460,264
GRCh38 3 148,742,477
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.49607G>A
NC_000003.12:g.148742477G>A
NC_000003.11:g.148460264G>A
NM_032049.4:c.*362G>A
More... 		01/13/2018 3 prime utr variant uncertain significance Primitive renal tubule syndrome; 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_031850
Location:3UTRS;EXON

Gene Symbol:AGTR1
Accession:NM_000685
Location:3UTRS;EXON

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

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

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

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000333971 CLINVAR
dbSNP (RS) rs144520513 CLINVAR
MedGen C0266313 CLINVAR
NCBI Gene AGTR1 CLINVAR
OMIM 106165 CLINVAR
  267430 CLINVAR
SNOMED CT 702397002 CLINVAR