RGD:8591137 Rat Genome Database

Variant: RGD:8591137 - Homo sapiens

RGD ID:

8591137

RS ID:

rs2471532

ClinVar ID:

CV131785

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

CEP290

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	12	88,496,838
GRCh38	12	88,103,061

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
NC_000012.12:g.88103061C>G NC_000012.11:g.88496838C>G NG_008417.2:g.44156G>C NM_025114.3:c.2818-50G>C More...	07/22/2021	intron\|intron variant	benign\|likely benign\|conflicting interpretations of pathogenicity	AllHighlyPenetrant; MECKEL-GRUBER SYNDROME, TYPE 4; none provided

Disease Annotations Click to see Annotation Detail View

Bardet-Biedl syndrome 14 (IAGP)

Joubert syndrome 5 (IAGP)

Meckel syndrome 4 (IAGP)

Senior-Loken Syndrome 6 (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	CEP290
Accession:	XM_011538765
Location:	INTRON

Gene Symbol:	CEP290
Accession:	XM_047429563
Location:	INTRON

Gene Symbol:	CEP290
Accession:	XM_047429562
Location:	INTRON

Gene Symbol:	CEP290
Accession:	XM_011538759
Location:	INTRON

Gene Symbol:	CEP290
Accession:	XM_017019981
Location:	INTRON

Gene Symbol:	CEP290
Accession:	XM_047429560
Location:	INTRON

Gene Symbol:	CEP290
Accession:	XM_011538756
Location:	INTRON

Gene Symbol:	CEP290
Accession:	XM_011538757
Location:	INTRON

Gene Symbol:	CEP290
Accession:	XM_011538764
Location:	INTRON

Gene Symbol:	CEP290
Accession:	XM_011538763
Location:	INTRON

Gene Symbol:	CEP290
Accession:	XM_011538762
Location:	INTRON

Gene Symbol:	CEP290
Accession:	XM_011538760
Location:	INTRON

Gene Symbol:	CEP290
Accession:	NM_025114
Location:	INTRON

Gene Symbol:	CEP290
Accession:	XM_011538766
Location:	INTRON

Gene Symbol:	CEP290
Accession:	XM_011538758
Location:	INTRON

Gene Symbol:	CEP290
Accession:	XM_011538761
Location:	INTRON

Gene Symbol:	CEP290
Accession:	XM_047429558
Location:	INTRON

Gene Symbol:	CEP290
Accession:	XM_047429561
Location:	INTRON

Gene Symbol:	CEP290
Accession:	XM_017019983
Location:	INTRON

Gene Symbol:	CEP290
Accession:	XM_047429559
Location:	INTRON

Gene Symbol:	CEP290
Accession:	XM_017019980
Location:	INTRON

Gene Symbol:	CEP290
Accession:	XM_017019982
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	RCV000114191	CLINVAR
	RCV001578861	CLINVAR
	RCV001578862	CLINVAR
	RCV001578863	CLINVAR
	RCV001578864	CLINVAR
	RCV001647121	CLINVAR
dbSNP (RS)	rs2471532	CLINVAR
MedGen	C1857779	CLINVAR
	C1857780	CLINVAR
	C1970161	CLINVAR
	C2673874	CLINVAR
	C3661900	CLINVAR
	CN169374	CLINVAR
NCBI Gene	CEP290	CLINVAR
OMIM	610142	CLINVAR
	610188	CLINVAR
	610189	CLINVAR
	611134	CLINVAR
	615991	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:8591137 - Homo sapiens

Imported Disease Annotations - ClinVar