RGD:11661230 Rat Genome Database

Variant: RGD:11661230 - Homo sapiens

RGD ID:

11661230

RS ID:

rs886058069

ClinVar ID:

CV292889

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

AGTR1

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	3	148,458,974
GRCh38	3	148,741,187

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NP_033611.1:p.Ile51Thr NG_008468.1:g.48317T>C NC_000003.12:g.148741187T>C NC_000003.11:g.148458974T>C More...	01/12/2018	missense variant	uncertain significance	Primitive renal tubule syndrome; Renotubular dysgenesis

Disease Annotations Click to see Annotation Detail View

Renal Tubular Dysgenesis (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Renotubular dysgenesis (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	AGTR1
Accession:	NM_001382737
Location:	EXON
Amino Acid Prediction:	I to T (nonsynonymous)
Amino Acid Position:	51

Amino Acid Sequence (Calculated using NCBI transcript definition)
MILNSSTEDGIKRIQDDCPKAGRHNYIFVMIPTLYSIIFVVGIFGNSLVVTVIYFYMKLKTVASVFLLNLALADLCFLLT LPLWAVYTAMEYRWPFGNYLCKIASASVSFNLYASVFLLTCLSIDRYLAIVHPMKSRLRRTMLVAKVTCIIIWLLAGLAS LPAIIHRNVFFIENTNITVCAFHYESQNSTLPIGLGLTKNILGFLFPFLIILTSYTLIWKALKKAYEIQKNKPRNDDIFK IIMAIVLFFFFSWIPHQIFTFLDVLIQLGIIRDCRIADIVDTAMPITICIAYFNNCLNPLFYGFLGKKFKRYFLQLLKYI PPKAKSHSNLSTKMSTLSYRPSDNVSSSTKKPAPCFEVE*

Gene Symbol:	AGTR1
Accession:	NM_001382736
Location:	EXON
Amino Acid Prediction:	I to T (nonsynonymous)
Amino Acid Position:	51

Amino Acid Sequence (Calculated using NCBI transcript definition)
MILNSSTEDGIKRIQDDCPKAGRHNYIFVMIPTLYSIIFVVGIFGNSLVVTVIYFYMKLKTVASVFLLNLALADLCFLLT LPLWAVYTAMEYRWPFGNYLCKIASASVSFNLYASVFLLTCLSIDRYLAIVHPMKSRLRRTMLVAKVTCIIIWLLAGLAS LPAIIHRNVFFIENTNITVCAFHYESQNSTLPIGLGLTKNILGFLFPFLIILTSYTLIWKALKKAYEIQKNKPRNDDIFK IIMAIVLFFFFSWIPHQIFTFLDVLIQLGIIRDCRIADIVDTAMPITICIAYFNNCLNPLFYGFLGKKFKRYFLQLLKYI PPKAKSHSNLSTKMSTLSYRPSDNVSSSTKKPAPCFEVE*

Gene Symbol:	AGTR1
Accession:	NM_031850
Location:	EXON
Amino Acid Prediction:	I to T (nonsynonymous)
Amino Acid Position:	51

Amino Acid Sequence (Calculated using NCBI transcript definition)
MILNSSTEDGIKRIQDDCPKAGRHNYIFVMIPTLYSIIFVVGIFGNSLVVTVIYFYMKLKTVASVFLLNLALADLCFLLT LPLWAVYTAMEYRWPFGNYLCKIASASVSFNLYASVFLLTCLSIDRYLAIVHPMKSRLRRTMLVAKVTCIIIWLLAGLAS LPAIIHRNVFFIENTNITVCAFHYESQNSTLPIGLGLTKNILGFLFPFLIILTSYTLIWKALKKAYEIQKNKPRNDDIFK IIMAIVLFFFFSWIPHQIFTFLDVLIQLGIIRDCRIADIVDTAMPITICIAYFNNCLNPLFYGFLGKKFKRYFLQLLKYI PPKAKSHSNLSTKMSTLSYRPSDNVSSSTKKPAPCFEVE*

Gene Symbol:	AGTR1
Accession:	NM_009585
Location:	EXON
Amino Acid Prediction:	I to T (nonsynonymous)
Amino Acid Position:	51

Amino Acid Sequence (Calculated using NCBI transcript definition)
MILNSSTEDGIKRIQDDCPKAGRHNYIFVMIPTLYSIIFVVGIFGNSLVVTVIYFYMKLKTVASVFLLNLALADLCFLLT LPLWAVYTAMEYRWPFGNYLCKIASASVSFNLYASVFLLTCLSIDRYLAIVHPMKSRLRRTMLVAKVTCIIIWLLAGLAS LPAIIHRNVFFIENTNITVCAFHYESQNSTLPIGLGLTKNILGFLFPFLIILTSYTLIWKALKKAYEIQKNKPRNDDIFK IIMAIVLFFFFSWIPHQIFTFLDVLIQLGIIRDCRIADIVDTAMPITICIAYFNNCLNPLFYGFLGKKFKRYFLQLLKYI PPKAKSHSNLSTKMSTLSYRPSDNVSSSTKKPAPCFEVE*

Gene Symbol:	AGTR1
Accession:	NM_004835
Location:	EXON
Amino Acid Prediction:	I to T (nonsynonymous)
Amino Acid Position:	51

Amino Acid Sequence (Calculated using NCBI transcript definition)
MILNSSTEDGIKRIQDDCPKAGRHNYIFVMIPTLYSIIFVVGIFGNSLVVTVIYFYMKLKTVASVFLLNLALADLCFLLT LPLWAVYTAMEYRWPFGNYLCKIASASVSFNLYASVFLLTCLSIDRYLAIVHPMKSRLRRTMLVAKVTCIIIWLLAGLAS LPAIIHRNVFFIENTNITVCAFHYESQNSTLPIGLGLTKNILGFLFPFLIILTSYTLIWKALKKAYEIQKNKPRNDDIFK IIMAIVLFFFFSWIPHQIFTFLDVLIQLGIIRDCRIADIVDTAMPITICIAYFNNCLNPLFYGFLGKKFKRYFLQLLKYI PPKAKSHSNLSTKMSTLSYRPSDNVSSSTKKPAPCFEVE*

Gene Symbol:	AGTR1
Accession:	NM_000685
Location:	EXON
Amino Acid Prediction:	I to T (nonsynonymous)
Amino Acid Position:	51

Amino Acid Sequence (Calculated using NCBI transcript definition)
MILNSSTEDGIKRIQDDCPKAGRHNYIFVMIPTLYSIIFVVGIFGNSLVVTVIYFYMKLKTVASVFLLNLALADLCFLLT LPLWAVYTAMEYRWPFGNYLCKIASASVSFNLYASVFLLTCLSIDRYLAIVHPMKSRLRRTMLVAKVTCIIIWLLAGLAS LPAIIHRNVFFIENTNITVCAFHYESQNSTLPIGLGLTKNILGFLFPFLIILTSYTLIWKALKKAYEIQKNKPRNDDIFK IIMAIVLFFFFSWIPHQIFTFLDVLIQLGIIRDCRIADIVDTAMPITICIAYFNNCLNPLFYGFLGKKFKRYFLQLLKYI PPKAKSHSNLSTKMSTLSYRPSDNVSSSTKKPAPCFEVE*

Gene Symbol:	AGTR1
Accession:	NM_032049
Location:	EXON
Amino Acid Prediction:	I to T (nonsynonymous)
Amino Acid Position:	51

Amino Acid Sequence (Calculated using NCBI transcript definition)
MILNSSTEDGIKRIQDDCPKAGRHNYIFVMIPTLYSIIFVVGIFGNSLVVTVIYFYMKLKTVASVFLLNLALADLCFLLT LPLWAVYTAMEYRWPFGNYLCKIASASVSFNLYASVFLLTCLSIDRYLAIVHPMKSRLRRTMLVAKVTCIIIWLLAGLAS LPAIIHRNVFFIENTNITVCAFHYESQNSTLPIGLGLTKNILGFLFPFLIILTSYTLIWKALKKAYEIQKNKPRNDDIFK IIMAIVLFFFFSWIPHQIFTFLDVLIQLGIIRDCRIADIVDTAMPITICIAYFNNCLNPLFYGFLGKKFKRYFLQLLKYI PPKAKSHSNLSTKMSTLSYRPSDNVSSSTKKPAPCFEVE*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000374387	CLINVAR
dbSNP (RS)	rs886058069	CLINVAR
MedGen	C0266313	CLINVAR
NCBI Gene	AGTR1	CLINVAR
OMIM	106165	CLINVAR
	267430	CLINVAR
SNOMED CT	702397002	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Variant: RGD:11661230 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:11661230 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar