RGD:11651409 Rat Genome Database

Variant: RGD:11651409 - Homo sapiens

RGD ID:

11651409

RS ID:

rs886063220

ClinVar ID:

CV320207

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

LOC130002223 TGFBR1

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	9	101,867,475
GRCh38	9	99,105,193

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	Age of Onset	Trait Synonyms
NG_007461.1:g.5064T>C NC_000009.12:g.99105193T>C NC_000009.11:g.101867475T>C NM_004612.2:c.-13T>C More...	06/14/2017	5 prime utr variant	uncertain significance	infancy	Aortic aneurysm syndrome, Loeys-Dietz type; Aortic aneurysm, familial thoracic 5; ESS1 (formerly); Ferguson-Smith type epithelioma; Furlong syndrome; Loeys-Dietz syndrome type 1A; Loeys-Dietz syndrome type 2A; Multiple self-healing squamous epithelioma; MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO; none provided; Thoracic aortic aneurysms and dissections

Disease Annotations Click to see Annotation Detail View

Ferguson-Smith tumor (IAGP)

Loeys-Dietz syndrome (IAGP)

Loeys-Dietz syndrome 1 (IAGP)

thoracic aortic aneurysm (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	TGFBR1
Accession:	NM_004612
Location:	5UTRS;EXON

Gene Symbol:	TGFBR1
Accession:	NM_001130916
Location:	5UTRS;EXON

Gene Symbol:	TGFBR1
Accession:	NM_001306210
Location:	5UTRS;EXON

Gene Symbol:	TGFBR1
Accession:	NM_001407422
Location:	5UTRS;EXON

Gene Symbol:	TGFBR1
Accession:	NM_001407426
Location:	5UTRS;EXON

Gene Symbol:	TGFBR1
Accession:	NM_001407428
Location:	5UTRS;EXON

Gene Symbol:	TGFBR1
Accession:	NM_001407420
Location:	5UTRS;EXON

Gene Symbol:	TGFBR1
Accession:	NM_001407429
Location:	5UTRS;EXON

Gene Symbol:	TGFBR1
Accession:	NM_001407416
Location:	5UTRS;EXON

Gene Symbol:	TGFBR1
Accession:	NM_001407417
Location:	5UTRS;EXON

Gene Symbol:	TGFBR1
Accession:	NM_001407435
Location:	5UTRS;EXON

Gene Symbol:	TGFBR1
Accession:	NM_001407436
Location:	5UTRS;EXON

Gene Symbol:	TGFBR1
Accession:	NM_001407438
Location:	5UTRS;EXON

Gene Symbol:	TGFBR1
Accession:	NM_001407437
Location:	5UTRS;EXON

Gene Symbol:
Accession:
Location:	5UTRS;INTRON

Gene Symbol:	TGFBR1
Accession:	NM_001407418
Location:	5UTRS;INTRON

Gene Symbol:	TGFBR1
Accession:	NM_001407423
Location:	5UTRS;INTRON

Gene Symbol:	TGFBR1
Accession:	NM_001407424
Location:	5UTRS;INTRON

Gene Symbol:	TGFBR1
Accession:	NM_001407425
Location:	5UTRS;INTRON

Gene Symbol:	TGFBR1
Accession:	NM_001407434
Location:	5UTRS;INTRON

Gene Symbol:	TGFBR1
Accession:	NM_001407432
Location:	5UTRS;INTRON

Gene Symbol:	TGFBR1
Accession:	NM_001407419
Location:	5UTRS;INTRON

Gene Symbol:	TGFBR1
Accession:	NM_001407433
Location:	5UTRS;INTRON

Gene Symbol:	TGFBR1
Accession:	NR_176360
Location:	EXON;NON-CODING

Gene Symbol:	TGFBR1
Accession:	NR_176362
Location:	EXON;NON-CODING

Gene Symbol:	TGFBR1
Accession:	NR_176361
Location:	EXON;NON-CODING

Gene Symbol:	TGFBR1
Accession:	NR_176363
Location:	EXON;NON-CODING

Gene Symbol:	TGFBR1
Accession:	XM_011518948
Location:	INTRON

Gene Symbol:	TGFBR1
Accession:	NM_001407430
Location:	INTRON

Gene Symbol:	TGFBR1
Accession:	NM_001407427
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:25741868

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000298980	CLINVAR
	RCV000356175	CLINVAR
	RCV000403385	CLINVAR
	RCV000589811	CLINVAR
	RCV002481248	CLINVAR
dbSNP (RS)	rs886063220	CLINVAR
MedGen	C2697932	CLINVAR
	C4551955	CLINVAR
	C4707243	CLINVAR
	CN517202	CLINVAR
NCBI Gene	LOC130002223	CLINVAR
	TGFBR1	CLINVAR
OMIM	132800	CLINVAR
	190181	CLINVAR
	609192	CLINVAR
SNOMED CT	446263001	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)

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Variant: RGD:11651409 - Homo sapiens

Imported Disease Annotations - ClinVar